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Satoko Miyatake

Showing results (141-150 of 212) with videos related to

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Journal of Human Genetics|June 12, 2023
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegiasHiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, 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.
Frontiers in Cell and Developmental Biology|March 22, 2021
<i>OTUD5</i> Variants Associated With X-Linked Intellectual Disability and Congenital MalformationKen Saida, Tokiko Fukuda, Daryl A Scott, et al.
Journal of Medical Genetics|September 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, et al.
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.
European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
Pageof 22

Showing results (141-150 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|June 12, 2023
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegiasHiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, 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.
Frontiers in Cell and Developmental Biology|March 22, 2021
<i>OTUD5</i> Variants Associated With X-Linked Intellectual Disability and Congenital MalformationKen Saida, Tokiko Fukuda, Daryl A Scott, et al.
Journal of Medical Genetics|September 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, et al.
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.
European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
Pageof 22