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Journal Articles

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Bari J. Ballew, PhD, Kevin B. Jacobs, M.S., Meredith Yeager, PhD, Neelam Giri, MD, Joseph F. Boland, Belynda D. Hicks, Laurie Burdett, PhD, Amy A. Hutchinson, Blanche P. Alter, MD, MPH, Sharon A. Savage, MD
Journal: Blood
Blood (2012) 120 (21): 515.
https://doi.org/10.1182/blood.V120.21.515.515
Published: 2012
Journal Articles

Analysis of Ribosomal Protein Genes Associated with Diamond Blackfan Anemia (DBA) In German DBA Patients and Their Relatives

Jessica Moetter, Ph.D., Mutlu Kartal, M.D., Joerg Meerpohl, M.D., Alexandra Fischer, Thorsten Simon, Prof. Dr., Sandra Urbaniak, Shinsuke Hirabayashi, Friedrich Kapp, M.D., Peter Noellke, MPH, Christian Kratz, MD, Charlotte M Niemeyer, Marcin W. Wlodarski, M.D.
Journal: Blood
Blood (2011) 118 (21): 729.
https://doi.org/10.1182/blood.V118.21.729.729
Published: 2011
Journal Articles

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

Clinical Trials & Observations
Erin M. Parry, Jonathan K. Alder, Xiaodong Qi, Julian J.-L. Chen, Mary Armanios
Journal: Blood
Blood (2011) 117 (21): 5607–5611.
https://doi.org/10.1182/blood-2010-11-322149
Published: 2011
Includes: Supplemental data
Journal Articles

A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.

Stan Benke, D. S. Houston, Inderjeet Dokal, Tom Vulliamy
Journal: Blood
Blood (2004) 104 (11): 4157.
https://doi.org/10.1182/blood.V104.11.4157.4157
Published: 2004