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Kohei Hamanaka

Showing results (11-20 of 80) with videos related to

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Epilepsy Research|June 12, 2019
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsyHirokazu Oguni, Aiko Nishikawa, Yu Sato, et al.
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.
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.
JAMA Neurology|June 7, 2017
Skeletal Muscle Involvement in Antisynthetase SyndromeEri Noguchi, Akinori Uruha, Shigeaki Suzuki, et al.
Journal of Human Genetics|October 10, 2020
The identification of two pathogenic variants in a family with mild and severe forms of developmental delayNoriko Miyake, Shermineh Heydari, Masoud Garshasbi, et al.
Cell Reports|November 2, 2017
Aberrant Myokine Signaling in Congenital Myotonic DystrophyMasayuki Nakamori, Kohei Hamanaka, James D Thomas, et al.
BMC Medical Genomics|December 7, 2021
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKana Kitayama, Tomoya Ishiguro, Masaki Komiyama, et al.
Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Pageof 8

Showing results (11-20 of 80) with videos related to

Sort By:
Pageof 8
Epilepsy Research|June 12, 2019
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsyHirokazu Oguni, Aiko Nishikawa, Yu Sato, et al.
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.
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.
JAMA Neurology|June 7, 2017
Skeletal Muscle Involvement in Antisynthetase SyndromeEri Noguchi, Akinori Uruha, Shigeaki Suzuki, et al.
Journal of Human Genetics|October 10, 2020
The identification of two pathogenic variants in a family with mild and severe forms of developmental delayNoriko Miyake, Shermineh Heydari, Masoud Garshasbi, et al.
Cell Reports|November 2, 2017
Aberrant Myokine Signaling in Congenital Myotonic DystrophyMasayuki Nakamori, Kohei Hamanaka, James D Thomas, et al.
BMC Medical Genomics|December 7, 2021
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKana Kitayama, Tomoya Ishiguro, Masaki Komiyama, et al.
Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Pageof 8