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Pediatric Diabetes
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June 10, 2017
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes
Kikumi Ushijima, Maki Fukami, Tadayuki Ayabe, et al.
The Journal of Allergy and Clinical Immunology
|
December 20, 2022
STAT6 gain-of-function variant exacerbates multiple allergic symptoms
Ichiro Takeuchi, Kumiko Yanagi, Shuji Takada, et al.
Molecular Biology of the Cell
|
April 4, 2019
The desmosome is a mesoscale lipid raft-like membrane domain
Joshua D Lewis, Amber L Caldara, Stephanie E Zimmer, et al.
Journal of Human Genetics
|
July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
International Archives of Allergy and Immunology
|
July 24, 2007
The GSTP1 gene is a susceptibility gene for childhood asthma and the GSTM1 gene is a modifier of the GSTP1 gene
Fumiaki Kamada, Yoichi Mashimo, Hiroki Inoue, et al.
Human Molecular Genetics
|
December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Journal of Human Genetics
|
August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Annals of Neurology
|
April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, et al.
American Journal of Human Genetics
|
June 25, 2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Page
of 17
Search research articles
Search
Showing results (141-150 of 165) with videos related to
Sort By:
Page
of 17
Pediatric Diabetes
|
June 10, 2017
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes
Kikumi Ushijima, Maki Fukami, Tadayuki Ayabe, et al.
The Journal of Allergy and Clinical Immunology
|
December 20, 2022
STAT6 gain-of-function variant exacerbates multiple allergic symptoms
Ichiro Takeuchi, Kumiko Yanagi, Shuji Takada, et al.
Molecular Biology of the Cell
|
April 4, 2019
The desmosome is a mesoscale lipid raft-like membrane domain
Joshua D Lewis, Amber L Caldara, Stephanie E Zimmer, et al.
Journal of Human Genetics
|
July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
International Archives of Allergy and Immunology
|
July 24, 2007
The GSTP1 gene is a susceptibility gene for childhood asthma and the GSTM1 gene is a modifier of the GSTP1 gene
Fumiaki Kamada, Yoichi Mashimo, Hiroki Inoue, et al.
Human Molecular Genetics
|
December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Journal of Human Genetics
|
August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Annals of Neurology
|
April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, et al.
American Journal of Human Genetics
|
June 25, 2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Page
of 17