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European Journal of Human Genetics : EJHG|June 11, 2015
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein functionHirotsugu Oda, Tatsuhiro Sato, Shinji Kunishima, et al.Blood|July 4, 2014
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disordersPatrizia Noris, Ginevra Biino, Alessandro Pecci, et al.Blood Advances|September 13, 2021
Expanding the genetic spectrum of TUBB1-related thrombocytopeniaVerónica Palma-Barqueros, Loredana Bury, Shinji Kunishima, et al.Blood|January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSuthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromesHideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, et al.Human Mutation|June 18, 2014
Spectrum of the mutations in Bernard-Soulier syndromeAnna Savoia, Shinji Kunishima, Daniela De Rocco, et al.Blood|April 17, 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Jonathan C Stephens, Fengyuan Hu, et al.Pageof 11