Associated Papers
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Bhuiyan ZA et al.
Journal of Medical Genetics, 2006
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