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Research article

First published 2011-7

Prenatal Diagnosis of Cornelia de Lange Syndrome by 2D and 3D Sonography

Hamad Ghazle, Prajna Chopra, Shweta Bhatt

Journal of Diagnostic Medical Sonography

Retricted access

Case report

First published 2011-7

Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy

Ana C. Scarpelli, Isabela A. Pordeus, Vera L. Resende [...]

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2019-11

Supporting locomotion fluency of six children with Cornelia de Lange syndrome: Awareness of microswitch responding and social validation

Fabrizio Stasolla, Alessandro O. Caffò, Viviana Perilli [...]

Technology and Disability

Open access

Case report

First published 2025-10

Cornelia de Lange Syndrome: A Recipe for Gastrointestinal Disaster? A Case Report

Pranav A, Pratima R Bhat, Deepak Nayak M

Journal of Indian Academy of Forensic Medicine

Open access

Case report

First published 2024

Management of Nasal Polyposis in Pediatric Patients With Cornelia de Lange Syndrome: A Case Series and Literature Review

Ian F. Caplan, Michael Ye, Aaron N. Pearlman

Ear,Nose & Throat Journal

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Research article

First published 2022-4

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome

Kristin W. Barañano, Amy Kimball, Susan L. Fong [...]

Journal of Child Neurology

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Case report

First published 2019-10

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Jennifer Hague, Philip Twiss, Zoe Mead [...]

Pediatric and Developmental Pathology

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Case report

First published 2009-02

Cornelia de Lange Syndrome: A Case Study

Goud Iravathy Kalal, Vimarsh P. Raina, Veerabhadra S. Nayak [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-09

Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

Qiulian Zhong, Desheng Liang, Jing Liu [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 1968-07

Cornelia de Lange Syndrome

Joseph W. Familant

Clinical Pediatrics

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