Related Experiment Videos
Individuals at risk in families with genetic disease
Journal of Medical Genetics
|December 1, 1971
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Emery-Dreifuss muscular dystrophy - a 40 year retrospective.
Neuromuscular disorders : NMD·2000
Genetic disorders in portraits.
American journal of medical genetics·1996
Some unanswered questions in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD·1994
Communication with parents of children with cancer.
Palliative medicine·1994
Duchenne muscular dystrophy--Meryon's disease.
Neuromuscular disorders : NMD·1993
Edward Meryon (1809-1880) and muscular dystrophy.
Journal of medical genetics·1993
Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.
Journal of medical genetics·2026
Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.
Journal of medical genetics·2026
Exploring the clinical and mutational spectrum of MORC2-associated disorders.
Journal of medical genetics·2026
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.
Journal of medical genetics·2026
Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.
Journal of medical genetics·2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
Journal of medical genetics·2026
[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026
Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.
Biology of sex differences·2026
Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.
Journal of assisted reproduction and genetics·2026
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
American journal of human genetics·2026