Hasil Pencarian - Blanche P Alter

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  1. 1
    Comment on: “The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes”

    Comment on: “The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure s... oleh Blanche P. Alter, Philip S. Rosenberg

    Diterbitkan 2015-09-01
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  2. 2
    Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

    Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry oleh Philip S. Rosenberg, Blanche P. Alter, Wolfram Ebell

    Diterbitkan 2008-04-01
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  3. 3
    Telomere length in inherited bone marrow failure syndromes

    Telomere length in inherited bone marrow failure syndromes oleh Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S. Rosenberg

    Diterbitkan 2015-01-01
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  4. 4
    Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

    Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up oleh Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S Rosenberg

    Diterbitkan 2018-01-01
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  5. 5
    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 oleh Sarah Cole, Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante

    Diterbitkan 2022-07-01
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  6. 6
    Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

    Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort oleh Burak Altintas, Neelam Giri, Lisa J. McReynolds, Ana Best, Blanche P. Alter

    Diterbitkan 2022-04-01
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  7. 7
    Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

    Telomere length is associated with disease severity and declines with age in dyskeratosis congenita oleh Blanche P. Alter, Philip S. Rosenberg, Neelam Giri, Gabriela M. Baerlocher, Peter M. Lansdorp, Sharon A. Savage

    Diterbitkan 2012-03-01
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  8. 8
    Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita

    Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita oleh Payal P. Khincha, Alison A. Bertuch, Shahinaz M. Gadalla, Neelam Giri, Blanche P. Alter, Sharon A. Savage

    Diterbitkan 2018-06-01
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  9. 9
    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 oleh Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M. Gadalla, Blanche P. Alter, Joseph Fontana, Sharon A. Savage

    Diterbitkan 2019-11-01
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  10. 10
    Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes

    Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes oleh Pamela Stratton, Neelam Giri, Sonia Bhala, Martha M Sklavos, Blanche P Alter, Sharon A Savage, Ligia A Pinto

    Diterbitkan 2024-08-01
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  11. 11
    Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita

    Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita oleh Mone't B. Thompson, Daniel Muldoon, Kelvin C. de Andrade, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Robert D. Shamburek, Payal P. Khincha

    Diterbitkan 2022-01-01
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  12. 12
    A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

    A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites oleh Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg, Blanche P. Alter, Hans Joenje, Hanne Meijers-Heijboer

    Diterbitkan 2012-01-01
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  13. 13
    Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

    Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives oleh Payal P. Khincha, Casey L. Dagnall, Belynda Hicks, Kristine Jones, Abraham Aviv, Masayuki Kimura, Hormuzd Katki, Geraldine Aubert, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Shahinaz M. Gadalla

    Diterbitkan 2017-08-01
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  14. 14
    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 oleh 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

    Diterbitkan 2021-07-01
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  15. 15
    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. oleh 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

    Diterbitkan 2014-01-01
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  16. 16
    Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

    Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry oleh Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter

    Diterbitkan 2010-08-01
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  17. 17
    Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in <i>RPL35A</i>

    Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in <i>RPL35A</i> oleh D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri

    Diterbitkan 2020-04-01
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  18. 18
    A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

    A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. oleh Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini

    Diterbitkan 2013-08-01
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  19. 19
    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 oleh 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

    Diterbitkan 2018-12-01
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