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Ryo Funayama

Showing results (61-70 of 79) with videos related to

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American Journal of Human Genetics|November 20, 2015
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaTetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, et al.
Human Genetics|April 17, 2015
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeNaomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Plos Genetics|February 27, 2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in miceYoichi Wada, Atsuo Kikuchi, Akimune Kaga, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
The Journal of Biological Chemistry|September 17, 2017
Inflammatory responses induce an identity crisis of alveolar macrophages, leading to pulmonary alveolar proteinosisRisa Ebina-Shibuya, Mitsuyo Matsumoto, Makoto Kuwahara, et al.
Neuromuscular Disorders : NMD|September 27, 2014
GNE myopathy associated with congenital thrombocytopenia: a report of two siblingsRumiko Izumi, Tetsuya Niihori, Naoki Suzuki, et al.
International Immunology|January 19, 2020
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndromeSou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
Journal of Immunology (Baltimore, Md. : 1950)|May 4, 2012
Runx1 deficiency in CD4+ T cells causes fatal autoimmune inflammatory lung disease due to spontaneous hyperactivation of cellsWon Fen Wong, Kazuyoshi Kohu, Akira Nakamura, et al.
Pageof 8

Showing results (61-70 of 79) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|November 20, 2015
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaTetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, et al.
Human Genetics|April 17, 2015
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeNaomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Plos Genetics|February 27, 2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in miceYoichi Wada, Atsuo Kikuchi, Akimune Kaga, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
The Journal of Biological Chemistry|September 17, 2017
Inflammatory responses induce an identity crisis of alveolar macrophages, leading to pulmonary alveolar proteinosisRisa Ebina-Shibuya, Mitsuyo Matsumoto, Makoto Kuwahara, et al.
Neuromuscular Disorders : NMD|September 27, 2014
GNE myopathy associated with congenital thrombocytopenia: a report of two siblingsRumiko Izumi, Tetsuya Niihori, Naoki Suzuki, et al.
International Immunology|January 19, 2020
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndromeSou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
Journal of Immunology (Baltimore, Md. : 1950)|May 4, 2012
Runx1 deficiency in CD4+ T cells causes fatal autoimmune inflammatory lung disease due to spontaneous hyperactivation of cellsWon Fen Wong, Kazuyoshi Kohu, Akira Nakamura, et al.
Pageof 8