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Journal Articles

Evaluation of Disease Burden and Response to Treatment in Adults with Type 1 Gaucher Disase Using a Validated DS3 Severity Score Index

Neal J. Weinreb, MD FACP, Eleanor Feingold, PhD, Suma Shankar, MD PhD, Barry E. Rosenbloom, MD, David Finegold, MD, PhD
Journal: Blood
Blood (2014) 124 (21): 4957.
https://doi.org/10.1182/blood.V124.21.4957.4957
Published: 2014
Journal Articles

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Chaim Jalas, Anastasia Fedick, Bari J Ballew, PhD, Blanche P Alter, MD, MPH, Neelam Giri, MD, Simon Boulton, Kenneth Offit, John Petrini, PhD, Nathan Treff, Sharon A Savage, MD
Journal: Blood
Blood (2013) 122 (21): 1228.
https://doi.org/10.1182/blood.V122.21.1228.1228
Published: 2013
Journal Articles

The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients

Makoto Futaki, Takayuki Yamashita, Hiroshi Yagasaki, Tatsushi Toda, Miharu Yabe, Shunichi Kato, Shigetaka Asano, Tatsutoshi Nakahata
Journal: Blood
Blood (2000) 95 (4): 1493–1498.
https://doi.org/10.1182/blood.V95.4.1493.004k35_1493_1498
Published: 2000
Journal Articles

The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin

Hava Peretz, Avital Mulai, Sali Usher, Ariella Zivelin, Avihai Segal, Zahavi Weisman, Moshe Mittelman, Hannah Lupo, Naomi Lanir, Benjamin Brenner, Ofer Shpilberg, Uri Seligsohn
Journal: Blood
Blood (1997) 90 (7): 2654–2659.
https://doi.org/10.1182/blood.V90.7.2654
Published: 1997