Journal of Medical Genetics
(ISSN: 0022-2593, 1468-6244)
Table of Contents
2016 - 53 (5)
- Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
- Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
- No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
- Risky business: getting a grip on BRIP.
- Epigenetic inheritance of telomere length obscures identification of causative PARN locus.
- Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
- Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
- A specific mutation in TBL1XR1 causes Pierpont syndrome.
- Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.