Resultados da busca - Alison A. Bertuch
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The molecular genetics of the telomere biology disorders por Alison A. Bertuch
Publicado em 2015Revisão -
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Dyskeratosis congenita as a disorder of telomere maintenance por Nya D. Nelson, Alison A. Bertuch
Publicado em 2011Revisão -
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The genetics and clinical manifestations of telomere biology disorders por Sharon A. Savage, Alison A. Bertuch
Publicado em 2010Revisão -
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Consider the workhorse: Nonhomologous end-joining in budding yeast por Charlene H. Emerson, Alison A. Bertuch
Publicado em 2016Revisão -
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Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis—An entity different from adults por Melissa R. DeLario, Andrea M. Sheehan, Ramona Ataya, Alison A. Bertuch, Carlos Gabriel Briones Vega, C. Renee Webb, Dolores López‐Terrada, Lakshmi Venkateswaran
Publicado em 2012Artigo -
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Structural Insights into Yeast Telomerase Recruitment to Telomeres por Hongwen Chen, Jing Xue, Dmitri Churikov, Evan P. Hass, Shaohua Shi, Laramie D. Lemon, Pierre Luciano, Alison A. Bertuch, David C. Zappulla, Vincent Géli, Jian Wu, Ming Lei
Publicado em 2017Artigo -
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Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and <i>O</i>6-methylguanine-... por Terzah M. Horton, Gaye Jenkins, Debananda Pati, Linna Zhang, M. Eileen Dolan, Albert Ribes‐Zamora, Alison A. Bertuch, Susan M. Blaney, Shannon L. Delaney, Madhuri Hegde, Stacey L. Berg
Publicado em 2009Artigo -
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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders por Payal P. Khincha, Alison A. Bertuch, Suneet Agarwal, Danielle M. Townsley, Neal S. Young, Sioḃán Keel, Akiko Shimamura, Farid Boulad, Tregony Simoneau, Henri Justino, Christin S. Kuo, Steven E. Artandi, Charles McCaslin, D. Cox, Sara Chaffee, Bridget F. Collins, Neelam Giri, Blanche P. Alter, Ganesh Raghu, Sharon A. Savage
Publicado em 2016Carta -
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Somatic mutations and clonal hematopoiesis in congenital neutropenia por Jun Xia, Christopher A. Miller, Jack Baty, Amrita Ramesh, Matthew Jotte, Robert S. Fulton, Tiphanie P. Vogel, Megan A. Cooper, Kelly Walkovich, Vahagn Makaryan, Audrey Anna Bolyard, Mary C. Dinauer, David B. Wilson, Adrianna Vlachos, Kasiani C. Myers, Robert Rothbaum, Alison A. Bertuch, David C. Dale, Akiko Shimamura, Laurence A. Boxer, Daniel C. Link
Publicado em 2017Artigo -
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Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tu... por Asbjørg Stray‐Pedersen, Emmanuelle Jouanguy, Amandine Créquer, Alison A. Bertuch, Betty S. Brown, Shalini N. Jhangiani, Donna M. Muzny, Tomasz Gambin, Hanne Sørmo Sorte, Ghadir Sasa, Denise W. Metry, Judith Campbell, Marianna Sockrider, Megan K. Dishop, David M. Scollard, Richard A. Gibbs, Emily M. Mace, Jordan S. Orange, James R. Lupski, Jean‐Laurent Casanova, Lenora M. Noroski
Publicado em 2014Artigo -
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Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC) por Courtney D. DiNardo, Sarah A. Bannon, Mark J. Routbort, Anna R. Franklin, Maureen E. Mork, Mary Armanios, Emily M. Mace, Jordan S. Orange, Meselle Jeff‐Eke, Jane E. Churpek, Koichi Takahashi, Jeffrey L. Jorgensen, Guillermo Garcia‐Manero, Steve Kornblau, Alison A. Bertuch, Hannah Cheung, Kapil N. Bhalla, P. Andrew Futreal, Lucy A. Godley, Keyur P. Patel
Publicado em 2016Artigo -
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Hematologic complications with age in Shwachman-Diamond syndrome por Elissa Furutani, Shanshan Liu, Ashley Galvin, Sarah K. Steltz, Maggie Malsch, Sara Loveless, Leann Mount, Jordan H. Larson, Kelan Queenan, Alison A. Bertuch, Mark D. Fleming, John M. Gansner, Amy E. Geddis, Rabi Hanna, Sioḃán Keel, Bonnie Lau, Jeffrey M. Lipton, Robert B. Lorsbach, Taizo A. Nakano, Adrianna Vlachos, Winfred C. Wang, Stella M. Davies, Edie Weller, Kasiani C. Myers, Akiko Shimamura
Publicado em 2021Artigo
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Assuntos relacionados
Biology
Genetics
Gene
Medicine
Telomere
DNA
Cell biology
Mutation
Cancer research
Transcription factor
DNA repair
Haematopoiesis
Immunology
Internal medicine
Stem cell
Telomerase
DNA-binding protein
Dyskeratosis congenita
Pathology
Bone marrow
Bone marrow failure
Disease
Exome sequencing
Germline
Molecular biology
Telomere-binding protein
DNA damage
Exome
Germline mutation
Pediatrics