Associated Papers
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering AK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
Thompson W et al.
Molecular Genetics & Genomic Medicine, 2020
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
Miyake N et al.
American Journal of Medical Genetics. Part A, 2005
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