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Yoichi Matsubara

Showing results (111-120 of 165) with videos related to

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Clinical Immunology (Orlando, Fla.)|June 17, 2020
X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case reportIchiro Takeuchi, Toshinao Kawai, Meika Nambu, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|October 29, 2018
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexesIkumi Umeki, Tetsuya Niihori, Taiki Abe, et al.
The Journal of Investigative Dermatology|June 18, 2019
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant HeterozygotesAkiharu Kubo, Takashi Sasaki, Hisato Suzuki, et al.
Journal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.
Human Genetics|July 28, 2004
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthmaKoichi Hasegawa, Mayumi Tamari, Chenchen Shao, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 21, 2016
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious PubertyHirohito Shima, Shuichi Yatsuga, Akie Nakamura, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|August 29, 2015
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitisEriko Nakano, Andrea Geisz, Atsushi Masamune, et al.
Pageof 17

Showing results (111-120 of 165) with videos related to

Sort By:
Pageof 17
Clinical Immunology (Orlando, Fla.)|June 17, 2020
X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case reportIchiro Takeuchi, Toshinao Kawai, Meika Nambu, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|October 29, 2018
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexesIkumi Umeki, Tetsuya Niihori, Taiki Abe, et al.
The Journal of Investigative Dermatology|June 18, 2019
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant HeterozygotesAkiharu Kubo, Takashi Sasaki, Hisato Suzuki, et al.
Journal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.
Human Genetics|July 28, 2004
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthmaKoichi Hasegawa, Mayumi Tamari, Chenchen Shao, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 21, 2016
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious PubertyHirohito Shima, Shuichi Yatsuga, Akie Nakamura, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|August 29, 2015
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitisEriko Nakano, Andrea Geisz, Atsushi Masamune, et al.
Pageof 17