Journal of Medical Genetics
(ISSN: 0022-2593, 1468-6244)
Articles Available on Medscape
- Naturally Occurring BRCA2 Alternative mRNA Splicing Events in Clinically Relevant Samples
- Improving Diagnosis and Broadening the Phenotypes in Early-onset Seizure and Severe Developmental Delay Disorders Through Gene Panel Analysis
- Combination of Palmoplantar Keratoderma and Hair Shaft Anomalies, the Warning Signal of Severe Arrhythmogenic Cardiomyopathy
- Low-Level APC Mutational Mosaicism Is the Underlying Cause in a Substantial Fraction of Unexplained Colorectal Adenomatous Polyposis Cases
- Leukoencephalopathy and Early Death Associated With an Ashkenazi-Jewish Founder Mutation in the Hikeshi Gene
Journal of Medical Genetics's Latest Table of Contents
2016 - 53 (8)
- GATOR1 complex: the common genetic actor in focal epilepsies.
- A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
- Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
- Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.
- Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
- Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.