Related Experiment Videos
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
Journal of Medical Genetics
|May 24, 2001
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Journal of the European Academy of Dermatology and Venereology : JEADV·2023
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Journal of the European Academy of Dermatology and Venereology : JEADV·2022
[Epidemiology and surgical treatment of pancreatic cancer in the State of Brandenburg : Analysis of 5418 cases].
Chirurgie (Heidelberg, Germany)·2022
Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.
Journal of medical genetics·2026
Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.
Journal of medical genetics·2026
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