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Takeshi Mizuguchi

Showing results (31-40 of 185) with videos related to

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NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|July 19, 2018
A novel SLC9A1 mutation causes cerebellar ataxiaKazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, et al.
Genomics|November 6, 2020
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencingTakeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, et al.
Journal of Human Genetics|January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive samplingEriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
Genome Biology|March 21, 2019
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA readsSatomi Mitsuhashi, Martin C Frith, Takeshi Mizuguchi, et al.
Brain & Development|June 8, 2020
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case reportChihiro Takase, Kentaro Shirai, Yu Matsumura, et al.
Radiology Case Reports|January 20, 2023
A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic <i>SNORD118</i> variantsKazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, et al.
Cardiology in the Young|August 15, 2009
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defectsHaruka Hamanoue, Sri Endah Rahayuningsih, Yuya Hirahara, et al.
Journal of Human Genetics|December 7, 2017
A novel mutation in SLC1A3 causes episodic ataxiaKazuhiro Iwama, Aya Iwata, Masaaki Shiina, et al.
Brain & Development|March 17, 2018
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girlKotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, et al.
Pageof 19

Showing results (31-40 of 185) with videos related to

Sort By:
Pageof 19
NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|July 19, 2018
A novel SLC9A1 mutation causes cerebellar ataxiaKazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, et al.
Genomics|November 6, 2020
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencingTakeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, et al.
Journal of Human Genetics|January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive samplingEriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
Genome Biology|March 21, 2019
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA readsSatomi Mitsuhashi, Martin C Frith, Takeshi Mizuguchi, et al.
Brain & Development|June 8, 2020
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case reportChihiro Takase, Kentaro Shirai, Yu Matsumura, et al.
Radiology Case Reports|January 20, 2023
A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic <i>SNORD118</i> variantsKazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, et al.
Cardiology in the Young|August 15, 2009
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defectsHaruka Hamanoue, Sri Endah Rahayuningsih, Yuya Hirahara, et al.
Journal of Human Genetics|December 7, 2017
A novel mutation in SLC1A3 causes episodic ataxiaKazuhiro Iwama, Aya Iwata, Masaaki Shiina, et al.
Brain & Development|March 17, 2018
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girlKotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, et al.
Pageof 19