Results 141 to 150 of about 3,407 (171)

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion

Proceedings of the National Academy of Sciences of the United States of America, 2022
Alexander Schleiffer, Jan-Michael Peters, Iain Finley Davidson   +2 more
exaly  

Cornelia de Lange

European Journal of Pediatrics, 1990
openaire   +1 more source

Ophthalmologic Findings in the Cornelia De Lange Syndrome

Ophthalmic Genetics, 2019

exaly  

PROFESSOR CORNELIA DE LANGE IN MEMORIAM

Acta Paediatrica, 1950
openaire   +2 more sources

Cornelia De Lange Syndrome Case Due to Genomic Rearrangements Including NIPBL

European Journal of Medical Genetics, 2010
Davut Pehlivan, Magdalena Ratajska, James R. Lupski   +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  

Coats' Disease, Megalopapilla and Cornelia De Lange Syndrome

Ophthalmic Genetics, 2009
Elias I Traboulsi, Jonathan E Sears
exaly  

Evaluating Face2Gene as a Tool to Identify Cornelia De Lange Syndrome by Facial Phenotypes

International Journal of Molecular Sciences, 2020
Antonio Musio, María Arnedo, Iñigo Marcos-Alcalde   +2 more
exaly  

Cornelia de Lange syndrome

Learning Disability Practice, 2018
openaire   +1 more source

The Behavioural Phenotype of Cornelia De Lange Syndrome: A Study of 56 Individuals

Journal of Intellectual Disability Research, 2007
Massimo Molteni, Laura Villa, A Selicorni   +2 more
exaly