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American Journal of Medical Genetics. Part A|July 12, 2011
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patientsKenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, et al.Annals of Nuclear Medicine|September 17, 2002
Serial assessment of left ventricular performance at rest and during bicycle exercise by ECG-gated myocardial perfusion SPECTShin-ichiro Kumita, Keiichi Cho, Hidenobu Nakajo, et al.Human Genetics|February 20, 2003
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese familiesNorimoto Kobayashi, Kazunaga Agematsu, Kanji Sugita, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.American Journal of Medical Genetics|September 20, 2002
Three novel DNMT3B mutations in Japanese patients with ICF syndromeHisao Shirohzu, Takeo Kubota, Azumi Kumazawa, et al.Annals of Nuclear Cardiology|December 21, 2022
Multicenter Registry in the Japanese Cardiac Sarcoidosis Prognostic (J-CASP) Study: Baseline Characteristics and Validation of the Non-invasive Approach Using <sup>18</sup>F-FDG PETTomoaki Nakata, Kenichi Nakajima, Masanao Naya, et al.American Journal of Medical Genetics. Part A|February 28, 2003
Further delineation of the behavioral and neurologic features in Costello syndromeHiroshi Kawame, Mihoko Matsui, Kenji Kurosawa, et al.Circulation Reports|June 12, 2023
Prognostic Implications of Sarcoidosis Granulomas - Insights From the Multicenter Registry, the Japanese Cardiac Sarcoidosis Prognostic StudyShohei Yoshida, Tomoaki Nakata, Masanao Naya, et al.American Journal of Medical Genetics. Part A|November 26, 2010
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literatureYoko Narumi, Tomoki Kosho, Goro Tsuruta, et al.American Journal of Medical Genetics. Part A|April 4, 2019
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature reviewTomomi Yamaguchi, Kyoko Takano, Yuji Inaba, et al.Pageof 13