eRAM(encyclopedia of Rare Disease Annotation for Precision Medicine)
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age06/07/2018
Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance06/06/2018
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo06/05/2018
Concomitant 1p36 deletion and TNFRSF14 mutations in primary cutaneous follicle center lymphoma frequently expressing high levels of EZH2 protein06/04/2018
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy06/01/2018
Circulating integrin alpha4/beta7+ lymphocytes targeted by vedolizumab have a pro-inflammatory phenotype05/31/2018
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases05/30/2018
Zebrafish Models of Rare Hereditary Pediatric Diseases05/29/2018
Idiopathic systemic capillary leak syndrome presenting as septic shock: A case report05/28/2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy05/25/2018
Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies05/24/2018
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant05/23/2018
Proposed Stages of Myocardial Phenotype Development in Fabry Disease05/22/2018
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life05/21/2018
Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy05/18/2018
LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells05/17/2018
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing05/16/2018
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease05/15/2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype05/14/2018
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice05/11/2018
Atrioventricular canal defect and genetic syndromes: The unifying role of Sonic Hedgehog05/10/2018
DNA methylation-based reclassification of olfactory neuroblastoma05/09/2018
Motor neuron disease of paraneoplastic origin: a rare but treatable condition05/08/2018
Merkel cell carcinoma expresses the immunoregulatory ligand CD200 and induces immunosuppressive macrophages and regulatory T cells05/07/2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)05/04/2018
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand05/03/2018
Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD405/02/2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes04/28/2018
VariFunNet, an integrated multiscale modeling framework to study the effects of rare non-coding variants in Genome-Wide Association Studies: applied to Alzheimer's Disease04/27/2018
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient04/26/2018
Transformation of T-Cell Acute Lymphoblastic Lymphoma to Peripheral T-Cell Lymphoma: A Report of Two Cases04/25/2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis04/24/2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia04/23/2018
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease04/20/2018
Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy04/19/2018
Rare variants in the gene ALPL that cause hypophosphatasia are strongly associated with ovarian and uterine disorders04/18/2018
Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc204/17/2018
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1)04/16/2018
Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location04/13/2018
Fabry disease in the Spanish population: observational study with detection of 77 patients04/12/2018
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)04/11/2018
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis04/10/2018
Infection history of the blood-meal host dictates pathogenic potential of the Lyme disease spirochete within the feeding tick vector04/09/2018
Long QT Syndrome Type 5-Lite: Defining the Clinical Phenotype Associated with the Potentially Pro-Arrhythmic p.Asp85Asn-KCNE1 Common Genetic Variant04/08/2018
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family04/04/2018
Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment04/03/2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 1404/02/2018
Candida albicans white-opaque switching influences virulence but not mating during oropharyngeal candidiasis03/30/2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns03/29/2018
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene03/28/2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency03/27/2018
Multimodal Retinal Imaging in Incontinentia Pigmenti Including Optical Coherence Tomography Angiography: Findings From an Older Cohort With Mild Phenotype03/26/2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy03/23/2018
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case03/22/2018
Haploinsufficient TNAP Mice Display Decreased Extracellular ATP Levels and Expression of Pannexin-1 Channels03/21/2018
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype03/20/2018
Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation03/19/2018
Neurobehavioral features in individuals with Kabuki syndrome03/16/2018
Rescue of a cherubism bone marrow stromal culture phenotype by reducing TGFβ signaling03/15/2018
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects03/14/2018
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies03/13/2018
Immune cell landscape in therapy-naïve squamous cell and adenocarcinomas of the lung03/12/2018
Genetic causes and clinical management of pediatric interstitial lung diseases03/09/2018
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations, and genetic factors modifying the clinical phenotype03/08/2018
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families03/07/2018
Mixed phenotype (T/B/myeloid) extramedullary blast crisis as an initial presentation of chronic myelogenous leukemia03/06/2018
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis03/05/2018
Joint Data Analysis in Nutritional Epidemiology: Identification of Observational Studies and Minimal Requirements03/02/2018
Minimum effective betamethasone dosage on the neurological phenotype in patients with Ataxia-Telangiectasia: a multicenter observer-blind study03/01/2018
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B02/28/2018
Human-induced pluripotent stem cell-derived macrophages and their immunological function in response to tuberculosis infection02/27/2018
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency02/26/2018
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-102/23/2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies02/22/2018
Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome02/21/2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome02/20/2018
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations02/19/2018
A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation02/16/2018
A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma02/15/2018
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth02/14/2018
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature02/13/2018
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation02/12/2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome02/09/2018
A phenotype centric benchmark of variant prioritisation tools02/08/2018
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders02/07/2018
Harmonising phenomics information for a better interoperability in the rare disease field02/06/2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant02/05/2018
Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report02/02/2018
Inhibition Of Aldehyde Dehydrogenase-Activity Expands Multipotent Myeloid Progenitor Cells With Vascular Regenerative Function02/01/2018
Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease01/31/2018
The genetic architecture of mitochondrial dysfunction in Parkinson's disease01/30/2018
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis01/29/2018
Different outcome of sarcoglycan missense mutation between human and mouse01/26/2018
A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype01/25/2018
Calpastatin ablation aggravates the molecular phenotype in cell and animal models of huntington disease01/24/2018
Induction of alpha-synuclein pathology in the enteric nervous system of the rat and non-human primate results in gastrointestinal dysmotility and transient CNS pathology01/23/2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth01/22/2018
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype01/19/2018
Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease01/18/2018
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation01/17/2018
Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?01/16/2018
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings01/15/2018
Defining the phenotypic spectrum of SLC6A1 mutations01/12/2018
A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions01/11/2018
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype01/10/2018
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease01/09/2018
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion01/08/2018
An updated review on primary signet-ring cell carcinoma of the urinary bladder and report of a case01/05/2018
Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse01/04/2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-84801/03/2018
Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families01/02/2018
Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies12/29/2017
Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location12/28/2017
Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response12/27/2017
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes12/26/2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies12/25/2017
Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver12/22/2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum12/21/2017
Clinical and genetic characterisation of a series of patients with triple A syndrome12/20/2017
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA12/19/2017
A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy12/18/2017
Lowe syndrome: A particularly severe phenotype without clinical kidney involvement12/15/2017
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency12/14/2017
Bilateral ovarian angiosarcoma arising from the mature cystic teratomas - A case report and review of the literature12/13/2017
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature12/12/2017
Codon bias among synonymous rare variants is associated with Alzheimer's disease imaging biomarker12/11/2017
Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition12/08/2017
Abnormal B-cell development in Systemic Lupus Erythematosus: what the genetics tell us12/07/2017
A Rare Extramedullary and Extralymphoid Presentation of Mixed Phenotypic Blastic Hematolymphoid Neoplasm: A Study of Two Cases12/06/2017
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece12/05/2017
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran12/04/2017
Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease12/01/2017
Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases11/30/2017
The BACHD Rat Model of Huntington Disease Shows Specific Deficits in a Test Battery of Motor Function11/29/2017
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype11/28/2017
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update11/27/2017
Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone11/24/2017
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease11/23/2017
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype11/22/2017
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease11/21/2017
The first treatment of mucopolysaccharide diseases type VII is approved by the public in America11/20/2017
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review11/17/2017
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy11/16/2017
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers11/15/2017
In vasculitis of small muscular arteries, activation of vessel-infiltrating CD8 T cells seems to be antigen-independent11/14/2017
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia11/13/2017
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.11/07/2017
Dissecting disease entities out of the broad spectrum of bipolar-disorders.11/06/2017
The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report11/02/2017
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance11/01/2017
Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene10/31/2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry10/30/2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability10/27/2017
Defective ciliogenesis in INPP5E-related Joubert syndrome10/26/2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies10/25/2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features10/24/2017
Left Ventricular Noncompaction Cardiomyopathy and Recurrent Polymorphic Ventricular Tachycardia: A Case Report and Literature Review10/23/2017
Psychopathological features in Noonan syndrome10/20/2017
Clinical-pathological correlations in three patients with fibrodysplasia ossificans progressiva10/19/2017
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis10/18/2017
Genital granulomatosis in male and female patients with Crohn`s disease: clinical presentation and treatment outcomes10/17/2017
Novel mutations in Darier disease and association to self-reported disease severity10/16/2017
Genetics in Idiopathic Pulmonary Fibrosis Pathogenesis, Prognosis, and Treatment10/13/2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features10/12/2017
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics10/11/2017
Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients.10/10/2017
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers10/09/2017
Liver cancers with stem/progenitor-cell features - a rare chemotherapy-sensitive malignancy.09/29/2017
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy09/28/2017
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short statures09/27/2017
Identification of novel candidate disease genes from de novo exonic copy number variants09/26/2017
Vitiligo skin is imprinted with resident memory CD8 T cells expressing CXCR309/25/2017
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita09/21/2017
Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis09/20/2017
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN09/19/2017
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings09/18/2017
Pseudomonas Endocarditis with an unstable phenotype: the challenges of isolate characterization and Carbapenem stewardship with a partial review of the literature09/15/2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome09/14/2017
A case of paroxysmal kinesigenic dyskinesia which exhibited the phenotype of anxiety disorder09/13/2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance09/12/2017
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease09/11/2017
BRAF V600E Mutations Occur in a Subset of Glomus Tumors, and are Associated With Malignant Histologic Characteristics08/25/2017
Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders08/24/2017
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP29008/23/2017
Adrenal myelolipoma(s) as presenting manifestation of subclinical Cushing’s disease (eutopic ACTH-dependent Cushing’s syndrome)08/22/2017
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families08/21/2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome08/18/2017
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases08/17/2017
Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome08/16/2017
Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene08/15/2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia08/14/2017
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome08/11/2017
A haplotype in CFH family genes confers high risk of rare glomerular nephropathies08/10/2017
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study08/09/2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain08/08/2017
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease08/07/2017
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)08/04/2017
Features of Autoimmune Pancreatitis Associated with Inflammatory Bowel Diseases08/03/2017
Tamer Yoldas found two signs that Can Be a First Sign of Familial Mediterranean Fever08/02/2017
Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer08/01/2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish07/31/2017
C5 nephritic factors drive the biological phenotype of C3 glomerulopathies07/28/2017
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene07/27/2017
Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis07/26/2017
Renal Cell Carcinoma, Unclassified with Medullary Phenotype: Poorly-Differentiated Adenocarcinomas Overlapping with Renal Medullary Carcinoma07/25/2017
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease07/24/2017
A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid07/21/2017
Yunis-Varón syndrome caused by biallelic VAC14 mutations07/20/2017
Down syndrome and Moyamoya disease: unusual cause of stroke07/19/2017
Spinocerebellar ataxia type 29 due to mutations in ITPR107/18/2017
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics07/17/2017
Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias07/14/2017
Small bowel carcinomas in celiac or Crohn's disease: distinctive histophenotypic, molecular and histogenetic patterns07/13/2017
Complement factor B mutation in atypical hemolytic uremic syndrome07/12/2017
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome07/11/2017
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene07/10/2017
Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia-A Case Report and Review of the Literature07/07/2017
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis07/06/2017
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation07/05/2017
A changing phenotype beyond the clinical trials about spinal muscular atrophy07/04/2017
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy07/03/2017
A Rare Case of Carcinoma in the Thyroglossal Duct Cyst of an Elderly Patient06/30/2017
Pleural Effusion Caused by Bacillus Calmette-Guérin Immunotherapy for Bladder Cancer06/29/2017
Study of Retinal Nerve Fibre Layer Thickness and Visual Contrast Sensitivity in HIV Positive Individuals06/28/2017
Inflammatory bowel disease in Bahrain: single-center experience06/27/2017
Possible mode of immunoprotection against symptomatic C. difficile infection06/26/2017
Clinical utility of alpha-1 proteinase inhibitor in the management of adult patients with severe alpha-1 antitrypsin deficiency06/23/2017
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family06/22/2017
Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes06/21/2017
Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant06/20/2017
Idiopathic Brachial Neuritis in a Patient with Multiple Myeloma06/19/2017
High-energy Trauma Precipitating Intramedullary Cavernous Malformation Hemorrhage – A Possible Underreported Mechanism06/16/2017
Megaloblastic Anemias : Nutritional and Other Causes06/15/2017
ApreciseKUre: an approach of Precision Medicine in a Rare Disease06/14/2017
Clinical characteristics and outcomes of acquired hemophilia A: experience at a single center in Japan06/13/2017
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia06/12/2017
From tooth extraction to Gorham-Stout disease: A case report06/09/2017
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients06/08/2017
Agranulocytosis and mixed-type autoimmune hemolytic anemia in primary sjögren's syndrome: a case report and review of the literature06/07/2017
Novel non-contiguous exon duplication in choroideremia06/06/2017
Clinical Activity of the γ-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors (Aggressive Fibromatosis)06/05/2017
Leber's congenital amaurosis and the role of gene therapy in congenital retinal disorders06/02/2017
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor06/01/2017
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency05/31/2017
Methylation profiling of paediatric pilocytic astrocytoma reveals variants specifically associated with tumour location and predictive of recurrence05/30/2017
Agreement between factor XIII activity and antigen assays in measurement of factor XIII: A French multicenter study of 147 human plasma samples05/29/2017
Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan05/26/2017
Dietary practices in isovaleric acidemia: A European survey05/25/2017
Synovial chondroma in Hoffa’s fat pad: Case report and literature review of a rare disorder05/24/2017
A Novel Mutation in SLC7A9 Gene in Cystinuria05/23/2017
Circuit mechanisms of sleepiness and cataplexy in narcolepsy05/22/2017
Giant Rhinophyma: A Rare Case of Total Nasal Obstruction and Restitutio Ad Integrum05/19/2017
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE05/18/2017
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency05/17/2017
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia05/16/2017
Human Listeriosis Presenting as Breast Abscess: Report of a Rare Case05/15/2017
Babesiosis-associated immune thrombocytopenia05/12/2017
Gonadal tumor in Frasier syndrome: a review and classification05/11/2017
Mucosa-Associated Lymphoid-Tissue Lymphoma of the Cecum and Rectum: A Case Report05/10/2017
A Rare Presentation and Histopathologic Findings of Woolly Hair Nevus05/09/2017
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy05/08/2017
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome05/05/2017
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX605/04/2017
Pyle disease (metaphyseal dysplasia) presenting in two adult sisters05/03/2017
Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease05/02/2017
Postexposure prophylaxis for Lassa fever: Experience from a recent outbreak in Nigeria04/28/2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH04/27/2017
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia04/26/2017
A Potential Life-Threatening Reaction to Glatiramer Acetate in Rett Syndrome04/25/2017
