Related Experiment Videos
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1
Journal of Medical Genetics
|November 10, 2000
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Disease evolution in systemic juvenile idiopathic arthritis: an international, observational cohort study through JIRcohort.
Pediatric rheumatology online journal·2023
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.
Italian journal of pediatrics·2022
Early-onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADV·2019
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Science (New York, N.Y.)·2018
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
Case Report: A case of acute kidney injury due to star fruit-infused liquor.
Frontiers in medicine·2026