Results 161 to 170 of about 60,147,798 (196)
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Cornelia de lange syndrome

The Indian Journal of Pediatrics, 1970
A 13-month-old boy having typical features of Cornelia de Lange syndrome is described. Two additional features were capillary hemangiomata and abnormal dermatoglyphic patterns. He had repeated lower respiratory tract infections and succumbed at the age of 15 months to bronchopneumonia.
openaire   +2 more sources

Barrett’s esophagus and Cornelia de Lange Syndrome

Acta Paediatrica, 2010
AbstractAim:  To review the records of Cornelia de Lange Syndrome (CDLS) children, affected by Gastro‐oesophageal reflux disease (GERD), to detect the presence of Barrett’s Esophagus (BE).Methods:  A total of 62 CDLS patients were investigated for GERD (1 month–35 years).
MacChini F.   +5 more
openaire   +3 more sources

CORNELIA DE LANGE SYNDROME

Archives of Pediatrics & Adolescent Medicine, 1966
To the Editor : Lately the Cornelia de Lange syndrome has received a great deal of attention in pediatric journals. Although the published cases are reported in white children, doctors in the San Francisco region also find the syndrome in children of Japanese or Chinese background.
openaire   +1 more source

Cornelia De Lange Syndrome and Congenital Diaphragmatic Hernia

Journal of Pediatric Surgery, 2021
Vikas S Gupta   +2 more
exaly  

Fetal Phenotype of Cornelia De Lange Syndrome With a Molecular Confirmation

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2023
Dong-Zhi Li, Qiu-Xia Yu, Xiao-Mei Lin
exaly  

Endocrinopathies in Cornelia de Lange syndrome

The Journal of Pediatrics, 1990
I D, Schwartz   +4 more
openaire   +2 more sources

Chromatinopathies: A Focus on Cornelia De Lange Syndrome

Clinical Genetics, 2020
Angelo Selicorni   +2 more
exaly  

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   +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  

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