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European Journal of Medical Genetics|September 9, 2017
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical settingDarine Villela, Silvia Souza Costa, Angela M Vianna-Morgante, et al.
Neural Plasticity|July 28, 2018
Increased DNA Copy Number Variation Mosaicism in Elderly Human BrainDarine Villela, Claudia K Suemoto, Renata Leite, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Insights from genomic microarrays into structural chromosome rearrangementsJeroen Knijnenburg, Károly Szuhai, Jacques Giltay, et al.
Medical Oncology (Northwood, London, England)|May 3, 2013
Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemiaAna Rosa da Silveira Costa, Anupama Vasudevan, Ana Krepischi, et al.
Orphanet Journal of Rare Diseases|August 20, 2013
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaMaria Sandbacka, Hannele Laivuori, Érika Freitas, et al.
Orphanet Journal of Rare Diseases|April 30, 2014
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutationsAmanda G Silva, Ana C V Krepischi, Peter L Pearson, et al.
European Journal of Medical Genetics|February 22, 2014
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing lossÉrika L Freitas, Jeanne Oiticica, Amanda G Silva, et al.
Current Obesity Reports|January 26, 2024
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular DiagnosisLaura Machado Lara Carvalho, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, et al.
Nucleic Acids Research|October 30, 2004
Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGHJoana Cardoso, Lia Molenaar, Renée X de Menezes, et al.
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