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American Journal of Medical Genetics. Part A
|
January 5, 2011
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5
Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, et al.
Neurobiology of Disease
|
October 12, 2004
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6
Zenjiro Matsuyama, Naomi Kimoto Yanagisawa, Yoko Aoki, et al.
Brain & Development
|
July 26, 2018
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, et al.
Cerebellum (London, England)
|
February 29, 2024
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, et al.
Ebiomedicine
|
March 23, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis
Shingo Takahara, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, et al.
Japanese Journal of Infectious Diseases
|
March 2, 2018
Trends of Human Coronaviruses in Yamagata, Japan in 2015-2016 Focusing on the OC43 Outbreak of June 2016
Yohei Matoba, Yoko Aoki, Shizuka Tanaka, et al.
Journal of Human Genetics
|
September 27, 2022
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
Yu Aihara, Matsuyuki Shirota, Atsuo Kikuchi, et al.
Modern Rheumatology
|
October 6, 2009
Resolution of anti-neutrophil cytoplasmic antibody-associated vasculitis after resection of gastric cancer
Yoshinori Hosoya, Seiji Minota, Alan Lefor, et al.
Endocrine Journal
|
July 24, 2025
A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan
Makiko Tachibana, Yuji Oto, Kenichi Kashimada, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, et al.
Page
of 26
Search research articles
Search
Showing results (91-100 of 255) with videos related to
Sort By:
Page
of 26
American Journal of Medical Genetics. Part A
|
January 5, 2011
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5
Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, et al.
Neurobiology of Disease
|
October 12, 2004
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6
Zenjiro Matsuyama, Naomi Kimoto Yanagisawa, Yoko Aoki, et al.
Brain & Development
|
July 26, 2018
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, et al.
Cerebellum (London, England)
|
February 29, 2024
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, et al.
Ebiomedicine
|
March 23, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis
Shingo Takahara, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, et al.
Japanese Journal of Infectious Diseases
|
March 2, 2018
Trends of Human Coronaviruses in Yamagata, Japan in 2015-2016 Focusing on the OC43 Outbreak of June 2016
Yohei Matoba, Yoko Aoki, Shizuka Tanaka, et al.
Journal of Human Genetics
|
September 27, 2022
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
Yu Aihara, Matsuyuki Shirota, Atsuo Kikuchi, et al.
Modern Rheumatology
|
October 6, 2009
Resolution of anti-neutrophil cytoplasmic antibody-associated vasculitis after resection of gastric cancer
Yoshinori Hosoya, Seiji Minota, Alan Lefor, et al.
Endocrine Journal
|
July 24, 2025
A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan
Makiko Tachibana, Yuji Oto, Kenichi Kashimada, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, et al.
Page
of 26