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American Journal of Medical Genetics. Part A|February 18, 2017
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotypeDébora Bertola, Guilherme Yamamoto, Michelle Buscarilli, et al.American Journal of Medical Genetics. Part A|February 10, 2015
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical featuresEllaine Carvalho, Rachel Honjo, Monize Magalhães, et al.Breast Cancer (Tokyo, Japan)|September 28, 2020
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancerGabriel Bandeira, Katia Rocha, Monize Lazar, et al.The Journal of Infectious Diseases|October 14, 2017
Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ ImmunityLena F Schimke, James Hibbard, Ruben Martinez-Barricarte, et al.Brain : a Journal of Neurology|July 17, 2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2Juliana Gurgel-Giannetti, David S Lynch, Anderson Rodrigues Brandão de Paiva, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.Pageof 1