Related Experiment Videos
Updated diagnostic criteria for CHARGE syndrome: a proposal
1Clinical Genetics Unit, Hôpital Robert Debré, Paris, France. alain.verloes@rdb.ap-hop-paris.fr
American Journal of Medical Genetics. Part A
|January 25, 2005
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks.
The Lancet regional health. Europe·2026
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
American journal of human genetics·2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
European journal of human genetics : EJHG·2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Brain : a journal of neurology·2026
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
The Journal of clinical investigation·2026
Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.
American journal of medical genetics. Part A·2026
A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.
American journal of medical genetics. Part A·2026
Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.
American journal of medical genetics. Part A·2026
Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.
American journal of medical genetics. Part A·2026
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.
American journal of medical genetics. Part A·2026
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.
American journal of medical genetics. Part A·2026
Society for Maternal-Fetal Medicine Position Statement: Decriminalization of substance use disorder in pregnancy.
Pregnancy (Hoboken, N.J.)·2026
The relationship between officer misconduct and convictionless arrests.
Proceedings of the National Academy of Sciences of the United States of America·2026
CPA governance restructuring and section autonomy: a case study in organizational resistance to structural diversity.
International journal of mental health systems·2026
Evaluating Required Child Sexual Abuse Prevention Education and Awareness Laws.
Child maltreatment·2026
Seismocardiographic Evidence of Deteriorating Cardiac Function Among Canadian Police Officers: Evidence from the Longitudinal Royal Canadian Mounted Police Posttraumatic Stress Disorder Study.
Canadian journal of physiology and pharmacology·2026