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Journal of Human Genetics
|
March 18, 2016
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, et al.
Nature Genetics
|
February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
Human Genetics
|
December 31, 2015
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, et al.
The Journal of Allergy and Clinical Immunology
|
October 14, 2025
JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
Satoshi Fujita, Shigenori Kabashima, Kumiko Yanagi, et al.
American Journal of Medical Genetics. Part A
|
April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
Human Mutation
|
January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
Journal of Human Genetics
|
February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese population
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Plos Genetics
|
December 7, 2023
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, et al.
Haematologica
|
September 17, 2016
ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype
Shinsuke Hirabayashi, Kentaro Ohki, Kazuhiko Nakabayashi, et al.
Haematologica
|
September 2, 2018
Clinical and molecular characteristics of <i>MEF2D</i> fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in <i>MEF2D-HNRNPH1</i> gene fusion
Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, et al.
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Search research articles
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Showing results (151-160 of 165) with videos related to
Sort By:
Page
of 17
Journal of Human Genetics
|
March 18, 2016
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, et al.
Nature Genetics
|
February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
Human Genetics
|
December 31, 2015
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, et al.
The Journal of Allergy and Clinical Immunology
|
October 14, 2025
JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
Satoshi Fujita, Shigenori Kabashima, Kumiko Yanagi, et al.
American Journal of Medical Genetics. Part A
|
April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
Human Mutation
|
January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
Journal of Human Genetics
|
February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese population
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Plos Genetics
|
December 7, 2023
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, et al.
Haematologica
|
September 17, 2016
ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype
Shinsuke Hirabayashi, Kentaro Ohki, Kazuhiko Nakabayashi, et al.
Haematologica
|
September 2, 2018
Clinical and molecular characteristics of <i>MEF2D</i> fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in <i>MEF2D-HNRNPH1</i> gene fusion
Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, et al.
Page
of 17