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Fuyuki Miya

Showing results (11-20 of 109) with videos related to

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Scientific Reports|October 24, 2018
Gene expression dataset for whole cochlea of Macaca fascicularisHideki Mutai, Fuyuki Miya, Hiroaki Shibata, et al.
Genomics Data|October 21, 2015
Gene expression profiling of DBA/2J mice cochleae treated with l-methionine and valproic acidFuyuki Miya, Hideki Mutai, Masato Fujii, et al.
Cell Genomics|September 17, 2024
Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon responseMahoko Takahashi Ueda, Jun Inamo, Fuyuki Miya, et al.
BMC Neurology|January 11, 2022
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case reportMamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, et al.
European Journal of Medical Genetics|April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndromeMamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
European Journal of Medical Genetics|January 1, 2023
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencingMamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto, et al.
Journal of Human Genetics|August 9, 2022
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseasesDaiki Kato, Satomi Mitsuhashi, Fuyuki Miya, et al.
BMC Pediatrics|May 25, 2018
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, et al.
Journal of Human Genetics|September 8, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyondFuyuki Miya, Daisuke Nakato, Hisato Suzuki, et al.
Congenital Anomalies|March 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruptionMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
Pageof 11

Showing results (11-20 of 109) with videos related to

Sort By:
Pageof 11
Scientific Reports|October 24, 2018
Gene expression dataset for whole cochlea of Macaca fascicularisHideki Mutai, Fuyuki Miya, Hiroaki Shibata, et al.
Genomics Data|October 21, 2015
Gene expression profiling of DBA/2J mice cochleae treated with l-methionine and valproic acidFuyuki Miya, Hideki Mutai, Masato Fujii, et al.
Cell Genomics|September 17, 2024
Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon responseMahoko Takahashi Ueda, Jun Inamo, Fuyuki Miya, et al.
BMC Neurology|January 11, 2022
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case reportMamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, et al.
European Journal of Medical Genetics|April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndromeMamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
European Journal of Medical Genetics|January 1, 2023
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencingMamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto, et al.
Journal of Human Genetics|August 9, 2022
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseasesDaiki Kato, Satomi Mitsuhashi, Fuyuki Miya, et al.
BMC Pediatrics|May 25, 2018
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, et al.
Journal of Human Genetics|September 8, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyondFuyuki Miya, Daisuke Nakato, Hisato Suzuki, et al.
Congenital Anomalies|March 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruptionMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
Pageof 11