Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
Source: Orphanet Journal of Rare Diseases
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
Source: BMC Medical Genomics
Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome
Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
SMC1A epilepsy syndrome: clinical data from a large international cohort
Source: American Journal of Medical Genetics, Part A
Cornelia de Lange syndrome
Source: Sprache Stimme Gehor
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