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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome | Journal of Human Genetics
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Clinical phenotype in RAD21 patients. Anterior–posterior facial views.... | Download Scientific Diagram
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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation: The American Journal of Human Genetics
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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients | European Journal of Human Genetics
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Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients - Mariani - 2016 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
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Chromatinopathies: A focus on Cornelia de Lange syndrome - Avagliano - 2020 - Clinical Genetics - Wiley Online Library
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A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Madmoiz'elle Mya: son quotidien avec le syndrome cornelia de lange. - Bonsoir !! Mya passe de bonnes vacances ! Entre journée grasse mat', grosse sieste Et levé très tôt mais zéro sieste
Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome | Haematologica
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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics
Parents jusqu'au bout - Bonjour! Nous avons reçu plusieurs témoignages ces jours-ci, merci pour votre générosité, votre ouverture, votre sensibilité. Nous vous partageons ici le témoignage de Julie, maman de Mélie.
![Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation](https://pub.mdpi-res.com/diagnostics/diagnostics-11-00142/article_deploy/html/images/diagnostics-11-00142-g002a.png?1611306345)