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American Journal of Human Genetics|December 3, 2014
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genesClaudia M B Carvalho, Shivakumar Vasanth, Marwan Shinawi, et al.American Journal of Medical Genetics. Part A|May 14, 2021
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analysesDarine Villela, Patricia C Mazzonetto, Michele P Migliavacca, et al.Scientific Reports|September 7, 2022
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in BrazilAna C V Krepischi, Darine Villela, Silvia Souza da Costa, et al.Oncotarget|December 13, 2017
DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterationsMariana Maschietto, Tatiane Cristina Rodrigues, André Yoshiaki Kashiwabara, et al.Journal of Autism and Developmental Disorders|December 11, 2022
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the LiteratureGiovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.European Journal of Endocrinology|November 22, 2019
Genetic investigation of patients with tall statureEdoarda Vasco de Albuquerque Albuquerque, Mariana Ferreira de Assis Funari, Elisângela Pereira de Souza Quedas, et al.Clinical Genetics|October 19, 2021
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genesClaudia Ismania Samogy Costa, Eduarda Morgana da Silva Montenegro, Mehdi Zarrei, et al.Human Reproduction (Oxford, England)|December 14, 2020
Insights from the genetic characterization of central precocious puberty associated with multiple anomaliesAna Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, et al.The Journal of Pediatrics|September 6, 2022
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 MicrodeletionMarília Moreira Montenegro, Débora Camilotti, Caio Robledo D'Anglioli Costa Quaio, et al.Pageof 13