Results 121 to 130 of about 1,020 (134)

Cornelia de Lange syndrome in diverse populations

American Journal of Medical Genetics, Part A, 2019
Antonio R Porras, David B Everman, Zornitza Stark   +2 more
exaly  

Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals With Cornelia De Lange Syndrome and Review of the Literature

American Journal of Medical Genetics, Part A, 2011
Antonie Kline, Dinah Clark, Laird G Jackson   +2 more
exaly  

Phenotypes of Cornelia De Lange Syndrome Caused by Non-Cohesion Genes: Novel Variants and Literature Review

Frontiers in Pediatrics, 2022
exaly  

Congenital Heart Disease in Cornelia De Lange Syndrome: Phenotype and Genotype Analysis

American Journal of Medical Genetics, Part A, 2012
Matthew A Deardorff, Antonie Kline, Kathryn C Chatfield   +2 more
exaly  

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Human Mutation, 2015
Angelo Selicorni, Lilian Bomme Ousager, Iñigo Marcos-Alcalde   +2 more
exaly  

Cornelia De Lange Syndrome: Clinical Review, Diagnostic and Scoring Systems, and Anticipatory Guidance

American Journal of Medical Genetics, Part A, 2007
Mark A Kliewer, Angelo Selicorni
exaly  

Improvement in hearing loss over time in Cornelia de Lange syndrome

International Journal of Pediatric Otorhinolaryngology, 2016
David F Smith, Antonie Kline, Stacey L. Ishman   +2 more
exaly  

Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia De Lange Syndrome

American Journal of Medical Genetics, Part A, 2012
Susan E Levy, Matthew A Deardorff, Ian D Krantz   +2 more
exaly  

Attenuated behaviour in Cornelia de Lange and fragile X syndromes Catatonia in CdLS and FXS

2018
Bell, L., Oliver, C., Wittkowski, A., Moss, J., Hare, D.   +4 more
openaire   +1 more source

Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia De Lange Syndrome

American Journal of Medical Genetics, Part A, 2010
Ana Losada, María Arnedo, Maria Pilar Ribate   +2 more
exaly