Latest Physician Education Resources
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
Differentially expressed genes in PPARg-deficient MSCs
Homozygous mutations in PJVK and MYO15A genes associated with nonsyndromic hearing loss in Moroccan families
Exome sequencing identifies targets in the treatment-resistant phathalmoplegic subphenotype of Myasthenia Gravis
Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Recognizing RNA structural motifs in HT-SELEX data for ribosomal protein S15
Combined mutation in Vhl, Trp53 and Rb1 causes clear cell renal cell carcinoma in mice. Nature Medicine
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Familial Pulmonary Fibrosis.
