Related Experiment Videos
Monozygotic twins concordant for congenital short femur
Journal of Medical Genetics
|August 1, 1986
Abstract:
We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly.
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Effects of organization and expectancy on recall and recognition.
Memory & cognition·2013
Auditory and visual similarity effects in recognition and recall.
Memory & cognition·2011
Would you dope? A general population test of the Goldman dilemma.
British journal of sports medicine·2009
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Physiological research·2007
Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.
Journal of medical genetics·2026
Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.
Journal of medical genetics·2026
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
Determinants of functional burden pleiotropy and gene dosage responses across human traits.
Nature communications·2026
Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026
Audiological Features in Pendred Syndrome: A Scoping Review.
The journal of international advanced otology·2026
Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.
Journal of molecular neuroscience : MN·2026