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Masamune Sakamoto

Showing results (11-20 of 26) with videos related to

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Journal of Neurology|July 30, 2024
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosisKazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.
Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
Clinical Genetics|September 27, 2021
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophyKen Saida, Junya Tamaoki, Masayuki Sasaki, et al.
American Journal of Medical Genetics. Part A|August 5, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case SeriesCaroline Brandão Piai, Gabriela Yumi Goto Salti, Marcella Cardoso Allegro, et al.
Human Molecular Genetics|August 4, 2021
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormalityMasamune Sakamoto, Kazunori Sasaki, Atsushi Sugie, et al.
Genome Medicine|April 26, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variantsKohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, et al.
Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Journal of Neurology|July 30, 2024
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosisKazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.
Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
Clinical Genetics|September 27, 2021
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophyKen Saida, Junya Tamaoki, Masayuki Sasaki, et al.
American Journal of Medical Genetics. Part A|August 5, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case SeriesCaroline Brandão Piai, Gabriela Yumi Goto Salti, Marcella Cardoso Allegro, et al.
Human Molecular Genetics|August 4, 2021
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormalityMasamune Sakamoto, Kazunori Sasaki, Atsushi Sugie, et al.
Genome Medicine|April 26, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variantsKohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, et al.
Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Pageof 3