檢索結果 - Wilfredo Torres‐Martinez
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Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease 由 Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres‐Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe Chikwava, Oscar W. Cummings, D. Holmes Morton, Erik G. Puffenberger
出版 2010Artigo -
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NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits 由 Piotr Dittwald, Tomasz Gambin, Przemysław Szafrański, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Rojas, Lindsay Elton, Daryl A. Scott, Christian P. Schaaf, Wilfredo Torres‐Martinez, Abby Stevens, Jill A. Rosenfeld, Satish Agadi, David Francis, Sung-Hae L. Kang, Amy M. Breman, Seema R. Lalani, Carlos A. Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L. Beaudet, Ankita Patel, Chad A. Shaw, James R. Lupski, Anna Gambin, Sau Wai Cheung, Paweł Stankiewicz
出版 2013Artigo
相關主題
Biology
Gene
Genetics
Medicine
Alternative medicine
Autoimmune disease
Comparative genomic hybridization
Computational biology
Copy-number variation
DNA
DNA damage
Disease
Family medicine
Gene duplication
Gene family
Genetic recombination
Genome
Genome instability
Gynecology
Homologous recombination
Human genome
Immunology
Informed consent
Internal medicine
Non-allelic homologous recombination
Paleontology
Pathology
Recombination
Segmental duplication
Test (biology)