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Books
A handbook of Malay script : with passages for reading and a list of commonly-used Arabic words / M.B. Lewis ; calligraphy by Mohd. Nor bin Hashim.
Author / Creator:Lewis, M. B. (Martha Blanche)
Publisher:London : Macmillan, 1958.
Edition:Reprinted (with alterations).
Date:1958.
Call Numbers:T0256511
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ebooks
The conjurer unmasked [electronic resource] : Being a clear and full explanation of all the surprizing performances exhibited as well in this kingdom, as on the continent By the most eminent and dexte...
Author / Creator:Decremps, Henri, 1746-1826.
Publisher:London : Printed for C. Stalker, Stationer's Court, Ludgate street, MDCCXC. [1790]
Edition:The third edition, with large additions and alterations, by Denton and others.
Date:MDCCXC. [1790]
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Books
Hypatia's daughters : fifteen hundred years of women philosophers / edited by Linda Lopez McAlister.
Publisher:Bloomington, Ind. ; [Great Britain] : Indiana University Press, c1996.
Call Numbers:N108.2/2
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Books
Analysis on the ideographic characteristics of some English morphemes / by Gao-ming Zhang and Hong Yang.
Author / Creator:Zhang, Gaoming, author.
Publisher:Newcastle upon Tyne Cambridge Scholars Publishing, 2014.
Call Numbers:G 2015/410
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ArticlesPeer ReviewedFull Text
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Author / Creator:Ballew, Bari J. ; Yeager, Meredith ; Jacobs, Kevin ; Giri, Neelam ; Boland, Joseph ; Burdett, Laurie ; Alter, Blanche P. ; Savage, Sharon A.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2013-04, Vol.132 (4), p.473-480
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ArticlesPeer ReviewedFull Text
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
Author / Creator:Ballew, Bari J ; Joseph, Vijai ; De, Saurav ; Sarek, Grzegorz ; Vannier, Jean-Baptiste ; Stracker, Travis ; Schrader, Kasmintan A ; Small, Trudy N ; O'Reilly, Richard ; Manschreck, Chris ; Harlan Fleischut, Megan M ; Zhang, Liying ; Sullivan, John ; Stratton, Kelly ; Yeager, Meredith ; Jacobs, Kevin ; Giri, Neelam ; Alter, Blanche P ; Boland, Joseph ; Burdett, Laurie ; Offit, Kenneth ; Boulton, Simon J ; Savage, Sharon A ; Petrini, John H J
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-08, Vol.9 (8), p.e1003695-e1003695
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ArticlesPeer ReviewedFull Text
Hematotoxicity in Workers Exposed to Low Levels of Benzene
Author / Creator:Lan, Qing ; Zhang, Luoping ; Li, Guilan ; Vermeulen, Roel ; Weinberg, Rona S. ; Dosemeci, Mustafa ; Rappaport, Stephen M. ; Shen, Min ; Alter, Blanche P. ; Wu, Yongji ; Kopp, William ; Waidyanatha, Suramya ; Rabkin, Charles ; Guo, Weihong ; Chanock, Stephen ; Hayes, Richard B. ; Linet, Martha ; Kim, Sungkyoon ; Yin, Songnian ; Rothman, Nathaniel ; Smith, Martyn T.
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2004-12, Vol.306 (5702), p.1774-1776
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ArticlesPeer ReviewedFull Text
Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia
Author / Creator:Gianferante, D. Matthew ; Mendez, Kyra J. W. ; Cole, Sarah ; Gadalla, Shahinaz M. ; Alter, Blanche P. ; Savage, Sharon A. ; Giri, Neelam
Publisher:United States: John Wiley & Sons, Inc
Journal title:EJHaem, 2024-12, Vol.5 (6), p.1117-1124
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ArticlesPeer ReviewedFull Text
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
Author / Creator:Stewart, Douglas R ; Pemov, Alexander ; Johnston, Jennifer J ; Sapp, Julie C ; Yeager, Meredith ; He, Ji ; Boland, Joseph F ; Burdett, Laurie ; Brown, Christina ; Gatti, Richard A ; Alter, Blanche P ; Biesecker, Leslie G ; Savage, Sharon A
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-06, Vol.9 (6), p.e98686-e98686
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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature
Author / Creator:Thompson, Ashley S. ; Saba, Nusrat ; McReynolds, Lisa J. ; Munir, Saeeda ; Ahmed, Parvez ; Sajjad, Sumaira ; Jones, Kristine ; Yeager, Meredith ; Donovan, Frank X. ; Chandrasekharappa, Settara C. ; Alter, Blanche P. ; Savage, Sharon A. ; Rehman, Sadia
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1693-n/a
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ArticlesPeer ReviewedFull Text
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis
Author / Creator:Alter, Blanche P. ; Best, Ana F.
Publisher:New York: Springer US
Journal title:Breast cancer research and treatment, 2020-07, Vol.182 (2), p.465-476
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ArticlesPeer ReviewedFull Text
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features
Author / Creator:Thompson, Ashley S. ; Giri, Neelam ; Gianferante, D. Matthew ; Jones, Kristine ; Savage, Sharon A. ; Alter, Blanche P. ; McReynolds, Lisa J.
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2022-12, Vol.92 (6), p.1671-1680
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ArticlesPeer ReviewedFull Text
Correction to: Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis
Author / Creator:Alter, Blanche P. ; Best, Ana F.
Publisher:New York: Springer US
Journal title:Breast cancer research and treatment, 2020-09, Vol.183 (2), p.491-491
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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Author / Creator:Mirabello, Lisa ; Khincha, Payal P ; Ellis, Steven R ; Giri, Neelam ; Brodie, Seth ; Chandrasekharappa, Settara C ; Donovan, Frank X ; Zhou, Weiyin ; Hicks, Belynda D ; Boland, Joseph F ; Yeager, Meredith ; Jones, Kristine ; Zhu, Bin ; Wang, Mingyi ; Alter, Blanche P ; Savage, Sharon A
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2017-06, Vol.54 (6), p.417-425
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Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Author / Creator:Alter, Blanche P ; Rosenberg, Philip S ; Brody, Lawrence C
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-01, Vol.44 (1), p.1-9
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ArticlesPeer ReviewedFull Text
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives
Author / Creator:Khincha, Payal P ; Dagnall, Casey L ; Hicks, Belynda ; Jones, Kristine ; Aviv, Abraham ; Kimura, Masayuki ; Katki, Hormuzd ; Aubert, Geraldine ; Giri, Neelam ; Alter, Blanche P ; Savage, Sharon A ; Gadalla, Shahinaz M
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2017-08, Vol.18 (8), p.1765
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ArticlesPeer ReviewedFull Text
Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes
Author / Creator:Fargo, John H. ; Rochowski, Andrzej ; Giri, Neelam ; Savage, Sharon A. ; Olson, Susan B. ; Alter, Blanche P.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2014-01, Vol.144 (1), p.15-27
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ArticlesPeer ReviewedFull Text
Bone mineral density in patients with inherited bone marrow failure syndromes
Author / Creator:Shankar, Roopa Kanakatti ; Giri, Neelam ; Lodish, Maya B ; Sinaii, Ninet ; Reynolds, James C ; Savage, Sharon A ; Stratakis, Constantine A ; Alter, Blanche P
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2017-09, Vol.82 (3), p.458-464
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Understanding the evolving phenotype of vascular complications in telomere biology disorders
Author / Creator:Higgs, Cecilia ; Crow, Yanick J. ; Adams, Denise M. ; Chang, Emmanuel ; Hayes, Don ; Herbig, Utz ; Huang, James N. ; Himes, Ryan ; Jajoo, Kunal ; Johnson, F. Brad ; Reynolds, Susan D. ; Yonekawa, Yoshihiro ; Armanios, Mary ; Boulad, Farid ; DiNardo, Courtney D. ; Dufour, Carlo ; Goldman, Frederick D. ; Khan, Shakila ; Kratz, Christian ; Myers, Kasiani C. ; Raghu, Ganesh ; Alter, Blanche P. ; Aubert, Geraldine ; Bhala, Sonia ; Cowen, Edward W. ; Dror, Yigal ; El-Youssef, Mounif ; Friedman, Bruce ; Giri, Neelam ; Helms Guba, Lisa ; Khincha, Payal P. ; Lin, Tiffany F. ; Longhurst, Hilary ; McReynolds, Lisa J. ; Nelson, Adam ; Olson, Tim ; Pariser, Anne ; Perona, Rosario ; Sasa, Ghadir ; Schratz, Kristen ; Simonetto, Douglas A. ; Townsley, Danielle ; Walsh, Michael ; Stevens, Katherine ; Agarwal, Suneet ; Bertuch, Alison A. ; Savage, Sharon A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Angiogenesis (London), 2019-02, Vol.22 (1), p.95-102
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ArticlesPeer ReviewedFull Text
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
Author / Creator:Al-Rahawan, Mohamad M ; Giri, Neelam ; Alter, Blanche P
Publisher:Japan: Springer Nature B.V
Journal title:International journal of hematology, 2006-04, Vol.83 (3), p.275-276
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A handbook of Malay script : with passages for reading and a list of commonly-used Arabic words / M.B. Lewis ; calligraphy by Mohd. Nor bin Hashim.

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The conjurer unmasked [electronic resource] : Being a clear and full explanation of all the surprizing performances exhibited as well in this kingdom, as on the continent By the most eminent and dexte...

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Hypatia's daughters : fifteen hundred years of women philosophers / edited by Linda Lopez McAlister.

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Analysis on the ideographic characteristics of some English morphemes / by Gao-ming Zhang and Hong Yang.

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

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Hematotoxicity in Workers Exposed to Low Levels of Benzene

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Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia

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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

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Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis

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Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features

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Correction to: Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis

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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

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Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2

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Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

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Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes

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Bone mineral density in patients with inherited bone marrow failure syndromes

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Understanding the evolving phenotype of vascular complications in telomere biology disorders

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Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita

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