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American Journal of Human Genetics
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May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
Tetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Journal of Clinical Immunology
|
August 14, 2024
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, et al.
Journal of Clinical Immunology
|
March 11, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, et al.
Journal of Clinical Immunology
|
January 27, 2021
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, et al.
International Immunology
|
July 1, 2020
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations
Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, et al.
Journal of Clinical Immunology
|
June 8, 2020
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Tsubasa Okano, Kohsuke Imai, Takuya Naruto, et al.
Journal of Medical Genetics
|
May 28, 2013
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, et al.
Research Square
|
August 14, 2023
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
Journal of Clinical Immunology
|
December 22, 2023
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
British Journal of Haematology
|
February 18, 2026
Utility of transplant conditioning intensity score in allogeneic haematopoietic stem cell transplantation for genetic disorders
Koji Kawaguchi, Satoshi Miyamoto, Nao Yoshida, et al.
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of 41
Search research articles
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Showing results (321-330 of 408) with videos related to
Sort By:
Page
of 41
American Journal of Human Genetics
|
May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
Tetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Journal of Clinical Immunology
|
August 14, 2024
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, et al.
Journal of Clinical Immunology
|
March 11, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, et al.
Journal of Clinical Immunology
|
January 27, 2021
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, et al.
International Immunology
|
July 1, 2020
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations
Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, et al.
Journal of Clinical Immunology
|
June 8, 2020
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Tsubasa Okano, Kohsuke Imai, Takuya Naruto, et al.
Journal of Medical Genetics
|
May 28, 2013
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, et al.
Research Square
|
August 14, 2023
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
Journal of Clinical Immunology
|
December 22, 2023
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
British Journal of Haematology
|
February 18, 2026
Utility of transplant conditioning intensity score in allogeneic haematopoietic stem cell transplantation for genetic disorders
Koji Kawaguchi, Satoshi Miyamoto, Nao Yoshida, et al.
Page
of 41