Journal of Medical Genetics
(ISSN: 0022-2593, 1468-6244)
Articles Available on Medscape
- 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
- Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated With a Homozygous OPA1 Mutation
Journal of Medical Genetics's Latest Table of Contents
2016 - 53 (7)
- The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
- Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
- Meta-analysis of 49���549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
- Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.
- Time to treatment benefit for adult patients with Fabry disease receiving agalsidase ��: data from the Fabry Registry.
- AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.
- Prevalence of BRCA1/2 germline mutations in 21���401 families with breast and ovarian cancer.
- COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.
- Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.
- Current needs for human and medical genomics research infrastructure in low and middle income countries.