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American Journal of Medical Genetics. Part A|April 17, 2025
Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal DevelopmentDenise M Christofolini, Guilherme Pinn, Thainá Vilella, et al.
American Journal of Medical Genetics. Part A|May 21, 2025
Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for ImprovementAline Apis, Beatriz Carvalho Nunes, Thainá Vilella, et al.
BMC Ophthalmology|October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variantsThainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
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