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Journal Articles

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu
Journal: Blood
Blood (2016) 128 (22): 5073.
https://doi.org/10.1182/blood.V128.22.5073.5073
Published: 2016
Journal Articles

Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency.

Kaan Boztug, Philip S. Rosenberg, Marie Böhm, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns, Jeffrey Innis, Zekai Avci, Hung Chi Tran, Isabelle Pellier, Simona Gatti, Rachel Fruge, Nima Parvaneh, Phil Darbyshire, George R. Buchanan, Blanche P Alter, Larry Boxer, Jean Donadieu, Karl Welte, Christoph Klein
Journal: Blood
Blood (2010) 116 (21): 1495.
https://doi.org/10.1182/blood.V116.21.1495.1495
Published: 2010
Journal Articles

Full Donor Engraftment without Chronic GvHD Following HLA-Matched Sibling Donor Haemopoietic Stem Cell Transplantation for Diamond Blackfan Anaemia

Jayanthi Alamelu, Farah O’Boyle, Natalie Killeen, Helen New, Ayad Atra, Inderjeet Dokal, John Davis, Letizia Foroni, Richard M. Szydlo, Irene Roberts, Josu de la Fuente
Journal: Blood
Blood (2008) 112 (11): 4394.
https://doi.org/10.1182/blood.V112.11.4394.4394
Published: 2008