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Journal of Human Genetics
|
January 27, 2017
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Zheng Wang, Eva Horemuzova, Aritoshi Iida, et al.
American Journal of Medical Genetics. Part A
|
February 10, 2024
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
Noboru Uchida, Tomohiro Ishii, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty
Yoko Hiraki, Akira Nishimura, Michiko Hayashidani, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
Kerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Human Molecular Genetics
|
September 5, 2014
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells
Minoru Okada, Shiro Ikegawa, Miho Morioka, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation
Takahiro Yamada, Masaki Takagi, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2008
Two new cases of pure 1q terminal deletion presenting with brain malformations
Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, et al.
European Journal of Medical Genetics
|
April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Clinical Dysmorphology
|
August 21, 2018
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Yasuyuki Fukuhara, Sung Y Cho, Osamu Miyazaki, et al.
Page
of 34
Search research articles
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Showing results (221-230 of 335) with videos related to
Sort By:
Page
of 34
Journal of Human Genetics
|
January 27, 2017
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Zheng Wang, Eva Horemuzova, Aritoshi Iida, et al.
American Journal of Medical Genetics. Part A
|
February 10, 2024
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
Noboru Uchida, Tomohiro Ishii, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty
Yoko Hiraki, Akira Nishimura, Michiko Hayashidani, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
Kerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Human Molecular Genetics
|
September 5, 2014
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells
Minoru Okada, Shiro Ikegawa, Miho Morioka, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation
Takahiro Yamada, Masaki Takagi, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2008
Two new cases of pure 1q terminal deletion presenting with brain malformations
Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, et al.
European Journal of Medical Genetics
|
April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Clinical Dysmorphology
|
August 21, 2018
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Yasuyuki Fukuhara, Sung Y Cho, Osamu Miyazaki, et al.
Page
of 34