Related Experiment Videos
Tricuspid atresia and conotruncal malformations in five families
Journal of Medical Genetics
|May 5, 1999
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
Prescription Patterns of Cardiovascular Medications in the Adolescent and Adult Population With Fontan Circulation-A Report From the Multicenter Single Ventricle Outcomes Network.
Journal of the American Heart Association·2026
Recommendations for the implementation of the transition process in celiac disease.
Revista espanola de enfermedades digestivas·2026
Assessment of suffering in Tunisian adolescents with sarcoma: A descriptive study.
Canadian oncology nursing journal = Revue canadienne de nursing oncologique·2026