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Annals of Human Genetics|October 9, 2023
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical settingPatricia C Mazzonetto, Darine Villela, Silvia Souza da Costa, et al.
Frontiers in Genetics|June 29, 2019
TET Upregulation Leads to 5-Hydroxymethylation Enrichment in HepatoblastomaMaria Prates Rivas, Talita Ferreira Marques Aguiar, Gustavo Ribeiro Fernandes, et al.
Human Mutation|May 8, 2007
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann, Gillian Turner, Maria Kirchhoff, et al.
Translational Oncology|April 13, 2012
Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the BreastCarolina Sens-Abuázar, Elisa Napolitano E Ferreira, Cynthia Aparecida Bueno Toledo Osório, et al.
Molecular Neurobiology|March 21, 2023
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic VariantsLuiza D Chaves, Laura M L Carvalho, Giovanna C Tolezano, et al.
Molecular Syndromology|March 30, 2016
Partial 1q Duplications and Associated PhenotypeMarcos L M Morris, José E Baroneza, Patricia Teixeira, et al.
Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Molecular Neurobiology|June 22, 2020
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation SkewingEvelyn Quintanilha Vianna, Rafael Mina Piergiorge, Andressa Pereira Gonçalves, et al.
Frontiers in Oncology|December 27, 2021
Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological PathwaysJuliana Sobral Barros, Talita Ferreira Marques Aguiar, Silvia Souza Costa, et al.
Molecular Neurobiology|December 15, 2024
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental SyndromeLaura Machado Lara Carvalho, Jessica Rzasa, Jennifer Kerkhof, et al.
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