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Hiroyuki Mishima

Showing results (41-50 of 114) with videos related to

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Human Genome Variation|November 23, 2019
Three brothers with a nonsense mutation in <i>KAT6A</i> caused by parental germline mosaicismChisei Satoh, Ryuta Maekawa, Akira Kinoshita, et al.
European Journal of Medical Genetics|April 13, 2024
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhoodMio Matsumoto, Momoko Oyake, Tomoyo Itonaga, et al.
Gynecologic Oncology|February 5, 2014
Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasmaOzora Tsukamoto, Kiyonori Miura, Hiroyuki Mishima, et al.
Acta Haematologica|September 13, 2021
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic AnemiaShinobu Tamura, Hideki Kosako, Yoshiaki Furuya, et al.
The Journal of Dermatology|September 8, 2022
Anti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's diseaseAmi Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, et al.
European Journal of Medical Genetics|December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalitiesChisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Genome Variation|August 3, 2017
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric diseaseYoshiro Morimoto, Shinji Ono, Akira Imamura, et al.
Journal of Human Genetics|May 30, 2019
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in JapanHiroyuki Mishima, Hisato Suzuki, Michiko Doi, et al.
Journal of Human Genetics|May 20, 2016
A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese populationKiyonori Miura, Hiroyuki Mishima, Michio Yasunami, et al.
The Plant Journal : for Cell and Molecular Biology|November 15, 2021
The DROL1 subunit of U5 snRNP in the spliceosome is specifically required to splice AT-AC-type introns in ArabidopsisTakamasa Suzuki, Tomomi Shinagawa, Tomoko Niwa, et al.
Pageof 12

Showing results (41-50 of 114) with videos related to

Sort By:
Pageof 12
Human Genome Variation|November 23, 2019
Three brothers with a nonsense mutation in <i>KAT6A</i> caused by parental germline mosaicismChisei Satoh, Ryuta Maekawa, Akira Kinoshita, et al.
European Journal of Medical Genetics|April 13, 2024
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhoodMio Matsumoto, Momoko Oyake, Tomoyo Itonaga, et al.
Gynecologic Oncology|February 5, 2014
Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasmaOzora Tsukamoto, Kiyonori Miura, Hiroyuki Mishima, et al.
Acta Haematologica|September 13, 2021
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic AnemiaShinobu Tamura, Hideki Kosako, Yoshiaki Furuya, et al.
The Journal of Dermatology|September 8, 2022
Anti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's diseaseAmi Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, et al.
European Journal of Medical Genetics|December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalitiesChisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Genome Variation|August 3, 2017
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric diseaseYoshiro Morimoto, Shinji Ono, Akira Imamura, et al.
Journal of Human Genetics|May 30, 2019
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in JapanHiroyuki Mishima, Hisato Suzuki, Michiko Doi, et al.
Journal of Human Genetics|May 20, 2016
A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese populationKiyonori Miura, Hiroyuki Mishima, Michio Yasunami, et al.
The Plant Journal : for Cell and Molecular Biology|November 15, 2021
The DROL1 subunit of U5 snRNP in the spliceosome is specifically required to splice AT-AC-type introns in ArabidopsisTakamasa Suzuki, Tomomi Shinagawa, Tomoko Niwa, et al.
Pageof 12