Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Takeshi Mizuguchi

Showing results (141-150 of 185) with videos related to

Pageof 19
Sort By:
American Journal of Medical Genetics. Part A|January 19, 2006
BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake, Osamu Shimokawa, Naoki Harada, et al.
Nature Genetics|July 6, 2004
Heterozygous TGFBR2 mutations in Marfan syndromeTakeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, et al.
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.
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.
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.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, 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.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Pageof 19

Showing results (141-150 of 185) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|January 19, 2006
BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake, Osamu Shimokawa, Naoki Harada, et al.
Nature Genetics|July 6, 2004
Heterozygous TGFBR2 mutations in Marfan syndromeTakeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, et al.
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.
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.
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.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, 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.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Pageof 19