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

Yoichi Matsubara

Showing results (71-80 of 165) with videos related to

Pageof 17
Sort By:
Nature Genetics|September 20, 2005
Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki, Tetsuya Niihori, Hiroshi Kawame, et al.
Drug Metabolism and Pharmacokinetics|July 28, 2011
Association between cancer risk and drug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in JapanYuichiro Tamaki, Tomio Arai, Haruhiko Sugimura, et al.
Journal of Human Genetics|November 18, 2003
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletionShuji Kayano, Shigeo Kure, Yoichi Suzuki, et al.
Endocrine Journal|June 30, 2017
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadismHirohito Shima, Akira Ishii, Yasunori Wada, et al.
Journal of Inherited Metabolic Disease|October 9, 2024
Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggsAtsumi Tsuji-Hosokawa, Iku Tsuchiya, Kie Shimizu, et al.
Human Genome Variation|March 14, 2018
An unclassified variant of <i>CHD7</i> activates a cryptic splice site in a patient with CHARGE syndromeYuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, et al.
Annals of Neurology|June 28, 2006
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertensionMireia del Toro, José Antonio Arranz, Alfons Macaya, et al.
Journal of Human Genetics|March 23, 2022
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and curesYuji Takahashi, Hidetoshi Date, Hideki Oi, et al.
Annals of Neurology|November 26, 2002
Identification of GFAP gene mutation in hereditary adult-onset Alexander's diseaseMichito Namekawa, Yoshihisa Takiyama, Yoko Aoki, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological surveyYu Abe, Yoko Aoki, Shinichi Kuriyama, et al.
Pageof 17

Showing results (71-80 of 165) with videos related to

Sort By:
Pageof 17
Nature Genetics|September 20, 2005
Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki, Tetsuya Niihori, Hiroshi Kawame, et al.
Drug Metabolism and Pharmacokinetics|July 28, 2011
Association between cancer risk and drug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in JapanYuichiro Tamaki, Tomio Arai, Haruhiko Sugimura, et al.
Journal of Human Genetics|November 18, 2003
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletionShuji Kayano, Shigeo Kure, Yoichi Suzuki, et al.
Endocrine Journal|June 30, 2017
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadismHirohito Shima, Akira Ishii, Yasunori Wada, et al.
Journal of Inherited Metabolic Disease|October 9, 2024
Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggsAtsumi Tsuji-Hosokawa, Iku Tsuchiya, Kie Shimizu, et al.
Human Genome Variation|March 14, 2018
An unclassified variant of <i>CHD7</i> activates a cryptic splice site in a patient with CHARGE syndromeYuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, et al.
Annals of Neurology|June 28, 2006
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertensionMireia del Toro, José Antonio Arranz, Alfons Macaya, et al.
Journal of Human Genetics|March 23, 2022
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and curesYuji Takahashi, Hidetoshi Date, Hideki Oi, et al.
Annals of Neurology|November 26, 2002
Identification of GFAP gene mutation in hereditary adult-onset Alexander's diseaseMichito Namekawa, Yoshihisa Takiyama, Yoko Aoki, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological surveyYu Abe, Yoko Aoki, Shinichi Kuriyama, et al.
Pageof 17