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Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics
Cornelia De Lange Syndrome: Practice Essentials, Pathophysiology, Epidemiology
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Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation
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Behavioural phenotype of Cornelia de Lange syndrome: case–control study | The British Journal of Psychiatry | Cambridge Core
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Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum - Gervasini - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics
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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature - ScienceDirect