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Molecular Genetics & Genomic Medicine|February 6, 2014
Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotypeHirokazu Kashiwagi, Shinji Kunishima, Kazunobu Kiyomizu, et al.
Annals of Hematology|November 22, 2024
Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathyShota Tsuda, Atsushi Sakamoto, Hiroyuki Kawaguchi, et al.
Journal of Child Neurology|February 27, 2013
Bilateral periventricular nodular heterotopia with megalencephaly: a case reportYu Abe, Satoru Kobayashi, Keisuke Wakusawa, et al.
CEN Case Reports|September 1, 2025
Successful kidney transplantation using eltrombopag in a patient with MYH9-related diseaseAya Kato, Yoko Shirai, Shoichiro Kanda, et al.
Journal of Medical Case Reports|January 9, 2018
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case reportYuko Ichimiya, Yuka Wada, Shinji Kunishima, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girlRie Tsuburaya, Mitsugu Uematsu, Atsuo Kikuchi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 22, 2015
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failureShigeru Makino, Shinji Kunishima, Aki Ikumi, et al.
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