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A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect
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I heard 3 things when he was finally out: 'He's here, he's breathing, and he has a TON of hair!' What a joyful moment. I say moment – because the joy only
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Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? - Avagliano - 2017 - Birth Defects Research - Wiley Online Library
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Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
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Cardinal features of Cornelia de Lange syndrome (as shown) | Download High-Quality Scientific Diagram
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Chromatinopathies: A focus on Cornelia de Lange syndrome - Avagliano - 2020 - Clinical Genetics - Wiley Online Library
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics
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Cornelia de Lange Syndrome Awareness Day is May 13: Disorder Remains Undiagnosed in an Estimated 20,000 Children
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PDF] Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. | Semantic Scholar
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Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL | Genetics in Medicine
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