Related Experiment Videos
Mutation analysis of the DKC1 gene in incontinentia pigmenti
Journal of Medical Genetics
|January 15, 2000
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Human PRDM2: Structure, function and pathophysiology.
Biochimica et biophysica acta. Gene regulatory mechanisms·2018
Hoxa5 undergoes dynamic DNA methylation and transcriptional repression in the adipose tissue of mice exposed to high-fat diet.
International journal of obesity (2005)·2016
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.
European journal of ophthalmology·2006
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
Beyond gene editing: the age of chromosome-scale genome engineering.
Trends in genetics : TIG·2026
Metabolic syndrome risk occurs at relatively low adiposity levels in Korean adults.
Nutrition research (New York, N.Y.)·2026
Deconvolving DNA mixtures with Demixtify.
Forensic science international. Genetics·2026
Insulin resistance mediates the relationship between cardiovascular-kidney-metabolic syndrome and depression: A cross-sectional analysis.
Heart & lung : the journal of critical care·2026
Ras-MAPK somatic variants in mesial temporal lobe epilepsy.
Current opinion in genetics & development·2026