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The Journal of Experimental Medicine
|
March 21, 2023
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Tina Nguyen, Anthony Lau, Julia Bier, et al.
The Journal of Experimental Medicine
|
July 15, 2025
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, et al.
Journal of Clinical Immunology
|
October 29, 2024
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party
Helena Buso, Etai Adam, Peter D Arkwright, et al.
Science Advances
|
February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
David B Beck, Mohammed A Basar, Anthony J Asmar, et al.
The Journal of Allergy and Clinical Immunology
|
May 4, 2025
Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy
Hiroshi Nihira, Daisuke Nakajima, Kazushi Izawa, et al.
Science (New York, N.Y.)
|
March 28, 2015
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
Michael J Ciancanelli, Sarah X L Huang, Priya Luthra, et al.
Science (New York, N.Y.)
|
August 4, 2012
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency
Dusan Bogunovic, Minji Byun, Larissa A Durfee, et al.
Journal of Human Genetics
|
December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Journal of the Anus, Rectum and Colon
|
February 2, 2026
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2024 for the Clinical Practice of Inflammatory Bowel Disease-Associated Intestinal Neoplasia (English Version)
Soichiro Ishihara, Shinji Tanaka, Toshio Uraoka, et al.
Blood
|
April 27, 2016
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Julie Toubiana, Satoshi Okada, Julia Hiller, et al.
Page
of 41
Search research articles
Search
Showing results (371-380 of 408) with videos related to
Sort By:
Page
of 41
The Journal of Experimental Medicine
|
March 21, 2023
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Tina Nguyen, Anthony Lau, Julia Bier, et al.
The Journal of Experimental Medicine
|
July 15, 2025
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, et al.
Journal of Clinical Immunology
|
October 29, 2024
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party
Helena Buso, Etai Adam, Peter D Arkwright, et al.
Science Advances
|
February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
David B Beck, Mohammed A Basar, Anthony J Asmar, et al.
The Journal of Allergy and Clinical Immunology
|
May 4, 2025
Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy
Hiroshi Nihira, Daisuke Nakajima, Kazushi Izawa, et al.
Science (New York, N.Y.)
|
March 28, 2015
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
Michael J Ciancanelli, Sarah X L Huang, Priya Luthra, et al.
Science (New York, N.Y.)
|
August 4, 2012
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency
Dusan Bogunovic, Minji Byun, Larissa A Durfee, et al.
Journal of Human Genetics
|
December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Journal of the Anus, Rectum and Colon
|
February 2, 2026
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2024 for the Clinical Practice of Inflammatory Bowel Disease-Associated Intestinal Neoplasia (English Version)
Soichiro Ishihara, Shinji Tanaka, Toshio Uraoka, et al.
Blood
|
April 27, 2016
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Julie Toubiana, Satoshi Okada, Julia Hiller, et al.
Page
of 41