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Fuyuki Miya

Showing results (61-70 of 109) with videos related to

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American Journal of Medical Genetics. Part A|April 15, 2016
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndromeIkumi Hori, Fuyuki Miya, Kei Ohashi, et al.
Nature Communications|August 24, 2022
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility lociKensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, et al.
Plos Genetics|April 16, 2020
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humansHideki Mutai, Koichiro Wasano, Yukihide Momozawa, et al.
Human Genome Variation|April 16, 2016
Truncating mutation in NFIA causes brain malformation and urinary tract defectsYutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Clinical Genetics|January 4, 2023
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analysesKeisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, et al.
Scientific Reports|March 19, 2024
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegenerationMamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, et al.
Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.
Scientific Reports|March 20, 2015
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsFuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, et al.
Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Plos One|July 2, 2015
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesDaichi Shigemizu, Takeshi Aiba, Hidewaki Nakagawa, et al.
Pageof 11

Showing results (61-70 of 109) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|April 15, 2016
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndromeIkumi Hori, Fuyuki Miya, Kei Ohashi, et al.
Nature Communications|August 24, 2022
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility lociKensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, et al.
Plos Genetics|April 16, 2020
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humansHideki Mutai, Koichiro Wasano, Yukihide Momozawa, et al.
Human Genome Variation|April 16, 2016
Truncating mutation in NFIA causes brain malformation and urinary tract defectsYutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Clinical Genetics|January 4, 2023
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analysesKeisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, et al.
Scientific Reports|March 19, 2024
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegenerationMamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, et al.
Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.
Scientific Reports|March 20, 2015
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsFuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, et al.
Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Plos One|July 2, 2015
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesDaichi Shigemizu, Takeshi Aiba, Hidewaki Nakagawa, et al.
Pageof 11