Výsledky vyhledávání - Hemakumar M. Reddy
- Zobrazuji výsledky 1 - 3 z 3
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1
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States Autor Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang
Vydáno 2016Artigo -
2
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Autor Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur
Vydáno 2016Pré-impressão -
3
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Autor Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Bioinformatics
Computational biology
Disease
Exome
Exome sequencing
Gene expression
Genetic testing
Medicine
Mendelian inheritance
Mutation
Transcriptome
Alternative splicing
DNA sequencing
Exon
Facioscapulohumeral muscular dystrophy
False discovery rate
Genetic diagnosis
Genetic heterogeneity
Genome
Internal medicine
Limb-girdle muscular dystrophy
Muscular dystrophy
Myopathy
Pathology
Phenotype
Proband
Sanger sequencing