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Journal of Medical Genetics
|
May 9, 2022
Novel <i>POLE</i> mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, et al.
Annals of Clinical and Translational Neurology
|
December 30, 2023
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy
Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2015
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
Yukiko Kuroda, Ikuko Ohashi, Yumi Enomoto, et al.
Vaccine
|
January 27, 2019
Phylogenetic and antigenic analyses of coxsackievirus A6 isolates in Yamagata, Japan between 2001 and 2017
Katsumi Mizuta, Shizuka Tanaka, Kenichi Komabayashi, et al.
International Journal of Cardiology
|
April 8, 2014
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation
Naoki Fujimoto, Hiroshi Nakajima, Emiyo Sugiura, et al.
Japanese Journal of Infectious Diseases
|
November 26, 2014
Detection of the human coronavirus 229E, HKU1, NL63, and OC43 between 2010 and 2013 in Yamagata, Japan
Yohei Matoba, Chieko Abiko, Tatsuya Ikeda, et al.
Japanese Journal of Infectious Diseases
|
November 30, 2020
Isolation of Human Coronaviruses OC43, HKU1, NL63, and 229E in Yamagata, Japan, Using Primary Human Airway Epithelium Cells Cultured by Employing an Air-Liquid Interface Culture
Kenichi Komabayashi, Yohei Matoba, Junji Seto, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2026
Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan
Ayako Konishi, Makiko Tachibana, Yuji Oto, et al.
Neurology. Genetics
|
May 14, 2021
Possible Somatic Mosaicism of Novel <i>FUS</i> Variant in Familial Amyotrophic Lateral Sclerosis
Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, et al.
The Journal of Rheumatology
|
May 9, 2008
Increase in plasma levels of adiponectin after administration of anti-tumor necrosis factor agents in patients with rheumatoid arthritis
Takao Nagashima, Hikaru Okubo-Fornbacher, Yoko Aoki, et al.
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of 26
Search research articles
Search
Showing results (121-130 of 255) with videos related to
Sort By:
Page
of 26
Journal of Medical Genetics
|
May 9, 2022
Novel <i>POLE</i> mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, et al.
Annals of Clinical and Translational Neurology
|
December 30, 2023
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy
Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2015
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
Yukiko Kuroda, Ikuko Ohashi, Yumi Enomoto, et al.
Vaccine
|
January 27, 2019
Phylogenetic and antigenic analyses of coxsackievirus A6 isolates in Yamagata, Japan between 2001 and 2017
Katsumi Mizuta, Shizuka Tanaka, Kenichi Komabayashi, et al.
International Journal of Cardiology
|
April 8, 2014
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation
Naoki Fujimoto, Hiroshi Nakajima, Emiyo Sugiura, et al.
Japanese Journal of Infectious Diseases
|
November 26, 2014
Detection of the human coronavirus 229E, HKU1, NL63, and OC43 between 2010 and 2013 in Yamagata, Japan
Yohei Matoba, Chieko Abiko, Tatsuya Ikeda, et al.
Japanese Journal of Infectious Diseases
|
November 30, 2020
Isolation of Human Coronaviruses OC43, HKU1, NL63, and 229E in Yamagata, Japan, Using Primary Human Airway Epithelium Cells Cultured by Employing an Air-Liquid Interface Culture
Kenichi Komabayashi, Yohei Matoba, Junji Seto, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2026
Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan
Ayako Konishi, Makiko Tachibana, Yuji Oto, et al.
Neurology. Genetics
|
May 14, 2021
Possible Somatic Mosaicism of Novel <i>FUS</i> Variant in Familial Amyotrophic Lateral Sclerosis
Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, et al.
The Journal of Rheumatology
|
May 9, 2008
Increase in plasma levels of adiponectin after administration of anti-tumor necrosis factor agents in patients with rheumatoid arthritis
Takao Nagashima, Hikaru Okubo-Fornbacher, Yoko Aoki, et al.
Page
of 26