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

Human genome variation

Showing results (1-10 of 525) with videos related to

Pageof 53
Sort By:
Human Genome Variation|April 25, 2019
A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndromeShumpei Uchino, Aritoshi Iida, Atsushi Sato, et al.
Human Genome Variation|June 25, 2019
Is the population of Sado Island genetically close to the population of western Japan?Kazuharu Misawa, Hiroshi Watanabe, Akio Yokoseki, et al.
Human Genome Variation|August 11, 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descentBushra Rauf, Bushra Irum, Firoz Kabir, et al.
Human Genome Variation|October 31, 2017
A novel frameshift mutation of <i>SYNE1</i> in a Japanese family with autosomal recessive cerebellar ataxia type 8Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, et al.
Human Genome Variation|February 10, 2018
A novel loss-of-function mutation in <i>HACE1</i> is linked to a genetic disorder in a patient from IndiaNivedita Hariharan, Samathmika Ravi, Bulagonda Eswarappa Pradeep, et al.
Human Genome Variation|February 2, 2018
Novel and recurrent <i>RNF213</i> variants in Japanese pediatric patients with moyamoya diseaseHiroyuki Akagawa, Maki Mukawa, Tadashi Nariai, et al.
Human Genome Variation|November 16, 2017
A novel <i>DARS2</i> mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevationKeiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, et al.
Human Genome Variation|October 7, 2017
Mutation analysis of the <i>CTNS</i> gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutationsForough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, et al.
Human Genome Variation|January 10, 2019
Novel neuroblastoma amplified sequence (<i>NBAS</i>) mutations in a Japanese boy with fever-triggered recurrent acute liver failureSahoko Ono, Junko Matsuda, Etsuko Watanabe, et al.
Human Genome Variation|October 25, 2019
Clinical and genetic characteristics of 14 patients from 13 Japanese families with <i>RPGR</i>-associated retinal disorder: report of eight novel variantsGo Mawatari, Kaoru Fujinami, Xiao Liu, et al.
Pageof 53

Showing results (1-10 of 525) with videos related to

Sort By:
Pageof 53
Human Genome Variation|April 25, 2019
A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndromeShumpei Uchino, Aritoshi Iida, Atsushi Sato, et al.
Human Genome Variation|June 25, 2019
Is the population of Sado Island genetically close to the population of western Japan?Kazuharu Misawa, Hiroshi Watanabe, Akio Yokoseki, et al.
Human Genome Variation|August 11, 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descentBushra Rauf, Bushra Irum, Firoz Kabir, et al.
Human Genome Variation|October 31, 2017
A novel frameshift mutation of <i>SYNE1</i> in a Japanese family with autosomal recessive cerebellar ataxia type 8Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, et al.
Human Genome Variation|February 10, 2018
A novel loss-of-function mutation in <i>HACE1</i> is linked to a genetic disorder in a patient from IndiaNivedita Hariharan, Samathmika Ravi, Bulagonda Eswarappa Pradeep, et al.
Human Genome Variation|February 2, 2018
Novel and recurrent <i>RNF213</i> variants in Japanese pediatric patients with moyamoya diseaseHiroyuki Akagawa, Maki Mukawa, Tadashi Nariai, et al.
Human Genome Variation|November 16, 2017
A novel <i>DARS2</i> mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevationKeiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, et al.
Human Genome Variation|October 7, 2017
Mutation analysis of the <i>CTNS</i> gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutationsForough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, et al.
Human Genome Variation|January 10, 2019
Novel neuroblastoma amplified sequence (<i>NBAS</i>) mutations in a Japanese boy with fever-triggered recurrent acute liver failureSahoko Ono, Junko Matsuda, Etsuko Watanabe, et al.
Human Genome Variation|October 25, 2019
Clinical and genetic characteristics of 14 patients from 13 Japanese families with <i>RPGR</i>-associated retinal disorder: report of eight novel variantsGo Mawatari, Kaoru Fujinami, Xiao Liu, et al.
Pageof 53