Related Experiment Videos
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
American journal of medical genetics. Part A·2017
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.
American journal of medical genetics. Part A·2013
The cardiofaciocutaneous syndrome.
Journal of medical genetics·2006
"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.
Fetal and pediatric pathology·2006
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.
American journal of medical genetics. Part A·2003
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
European journal of human genetics : EJHG·2003
Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.
Lancet (London, England)·2026
Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.
Lancet (London, England)·2026
Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.
Lancet (London, England)·2026