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 (111-120 of 185) with videos related to

Pageof 19
Sort By:
Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Arthritis Research & Therapy|June 6, 2019
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's diseaseNaomi Tsuchida, Yohei Kirino, Yutaro Soejima, et al.
Journal of Human Genetics|June 20, 2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantYuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, 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|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, 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.
Pageof 19

Showing results (111-120 of 185) with videos related to

Sort By:
Pageof 19
Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Arthritis Research & Therapy|June 6, 2019
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's diseaseNaomi Tsuchida, Yohei Kirino, Yutaro Soejima, et al.
Journal of Human Genetics|June 20, 2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantYuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, 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|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, 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.
Pageof 19