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Gen Nishimura

Showing results (281-290 of 335) with videos related to

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Journal of Human Genetics|December 15, 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failureAkira Nishimura-Tadaki, Takahito Wada, Gul Bano, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Axial spondylometaphyseal dysplasia: additional reportsShigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Journal of Human Genetics|March 18, 2011
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasiaJin Dai, Ok-Hwa Kim, Tae-Joon Cho, et al.
American Journal of Human Genetics|June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal HyperparathyroidismYoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, 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.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestationsTomoki Kosho, Noriko Miyake, Atsushi Hatamochi, et al.
Pageof 34

Showing results (281-290 of 335) with videos related to

Sort By:
Pageof 34
Journal of Human Genetics|December 15, 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failureAkira Nishimura-Tadaki, Takahito Wada, Gul Bano, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Axial spondylometaphyseal dysplasia: additional reportsShigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Journal of Human Genetics|March 18, 2011
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasiaJin Dai, Ok-Hwa Kim, Tae-Joon Cho, et al.
American Journal of Human Genetics|June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal HyperparathyroidismYoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, 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.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestationsTomoki Kosho, Noriko Miyake, Atsushi Hatamochi, et al.
Pageof 34