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Human Mutation|January 30, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduriaSebastián Menao, Eduardo López-Viñas, Cecilia Mir, et al.American Journal of Medical Genetics. Part A|April 2, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeJuan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, et al.Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.Pageof 3