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Satoko Miyatake

Showing results (161-170 of 212) with videos related to

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Journal of Human Genetics|July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeHiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
Annals of Neurology|December 8, 2023
RNA Foci in Two bi-Allelic RFC1 Expansion CarriersTaishi Wada, Hiroshi Doi, Masaki Okubo, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
Journal of the Neurological Sciences|March 25, 2023
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndromeShin Nabatame, Junpei Tanigawa, Koji Tominaga, 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.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.
Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, 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.
Pageof 22

Showing results (161-170 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeHiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
Annals of Neurology|December 8, 2023
RNA Foci in Two bi-Allelic RFC1 Expansion CarriersTaishi Wada, Hiroshi Doi, Masaki Okubo, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
Journal of the Neurological Sciences|March 25, 2023
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndromeShin Nabatame, Junpei Tanigawa, Koji Tominaga, 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.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.
Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, 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.
Pageof 22