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Takeshi Mizuguchi

Showing results (121-130 of 185) with videos related to

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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.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
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.
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.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
American Journal of Medical Genetics. Part A|May 17, 2024
Long-term clinical observation of patients with heterozygous KIF1A variantsAritomo Kawashima, Kaori Kodama, Yukimune Okubo, 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.
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.
Pageof 19

Showing results (121-130 of 185) with videos related to

Sort By:
Pageof 19
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.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
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.
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.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
American Journal of Medical Genetics. Part A|May 17, 2024
Long-term clinical observation of patients with heterozygous KIF1A variantsAritomo Kawashima, Kaori Kodama, Yukimune Okubo, 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.
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.
Pageof 19