Related Experiment Videos
Sulphate transporter gene mutations in apparently isolated club foot
Journal of Medical Genetics
|May 19, 2001
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Journal of medical genetics·2003
[Preimplantation genetic diagnosis and its psychological effects].
Journal de gynecologie, obstetrique et biologie de la reproduction·2003
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics·2003
Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.
Lancet (London, England)·2003
Identification of seven novel mutations in the GAN gene.
Human mutation·2003
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
Frustrated Interfacial Solvation Enhances Reaction Rates at Acidified Ice Grain Boundaries in Frozen Microdroplets.
Journal of the American Chemical Society·2026
Probing the Quantum Nature of Intramolecular Vibrational Energy Redistribution in HCCH-H2CC Isomerization Using High-Resolution Photoelectron Spectroscopy.
Journal of the American Chemical Society·2026
Innovative Method for Evaluating the Optical Properties of Liquid-Liquid Phase Separations Using Laser Scanning Microscopic Spectroscopy.
Microscopy research and technique·2026
Small extracellular vesicles are the key players in ochratoxin A-induced kidney toxicity.
Cell communication and signaling : CCS·2026