Showing 1 - 5 results of 5 for search 'Blanche P Alter', query time: 0.03s Refine Results
  1. 1
    Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

    Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19 by Sarah Cole, Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante

    Published 2022-07-01
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  2. 2
    Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

    Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder by Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M. Gadalla, Blanche P. Alter, Joseph Fontana, Sharon A. Savage

    Published 2019-11-01
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  3. 3
    The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

    The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature by Ashley S. Thompson, Nusrat Saba, Lisa J. McReynolds, Saeeda Munir, Parvez Ahmed, Sumaira Sajjad, Kristine Jones, Meredith Yeager, Frank X. Donovan, Settara C. Chandrasekharappa, Blanche P. Alter, Sharon A. Savage, Sadia Rehman

    Published 2021-07-01
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  4. 4
    Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

    Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. by Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti, Blanche P Alter, Leslie G Biesecker, Sharon A Savage

    Published 2014-01-01
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  5. 5
    Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

    Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls by Jung Kim, Wen Luo, Mingyi Wang, Talia Wegman-Ostrosky, Megan N. Frone, Jennifer J. Johnston, Michael L. Nickerson, Melissa Rotunno, Shengchao A. Li, Maria I. Achatz, Seth A. Brodie, Michael Dean, Kelvin C. de Andrade, Fernanda P. Fortes, Matthew Gianferante, Payal Khincha, Mary L. McMaster, Lisa J. McReynolds, Alexander Pemov, Maisa Pinheiro, Karina M. Santiago, Blanche P. Alter, Neil E. Caporaso, Shahinaz M. Gadalla, Lynn R. Goldin, Mark H. Greene, Jennifer Loud, Xiaohong R. Yang, Neal D. Freedman, Susan M. Gapstur, Mia M. Gaudet, Donato Calista, Paola Ghiorzo, Maria Concetta Fargnoli, Eduardo Nagore, Ketty Peris, Susana Puig, Maria Teresa Landi, Belynda Hicks, Bin Zhu, Jia Liu, Joshua N. Sampson, Stephen J. Chanock, Lisa J. Mirabello, Lindsay M. Morton, Leslie G. Biesecker, Margaret A. Tucker, Sharon A. Savage, Alisa M. Goldstein, Douglas R. Stewart

    Published 2018-12-01
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