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International Journal of Molecular Sciences|June 13, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental DisorderAljazi Al-Maraghi, Rulan Shaath, Katherine Ford, et al.
Frontiers in Immunology|June 14, 2019
Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)Andrea Lisco, Chun-Shu Wong, Susan Price, et al.
Frontiers in Immunology|July 24, 2019
Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)Andrea Lisco, Chun-Shu Wong, Susan Price, et al.
Blood|January 9, 2014
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutationsSusan Price, Pamela A Shaw, Amy Seitz, et al.
The Journal of Allergy and Clinical Immunology. in Practice|January 29, 2026
SPINK5 variants drive clinical variability in Netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomesMelek Yorgun Altunbas, Erhan Topal, Feyza Bayram-Catak, et al.
Genome Medicine|April 7, 2024
Burden of Mendelian disorders in a large Middle Eastern biobankWaleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, et al.
Journal of Clinical Immunology|August 22, 2019
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA DefectsDeniz Cagdas, Sevil Oskay Halaçlı, Çağman Tan, et al.
The Journal of Allergy and Clinical Immunology|December 3, 2022
Biallelic TLR4 deficiency in humansMelania Capitani, Ahmad A Al-Shaibi, Sumeet Pandey, et al.
Nature Reviews. Gastroenterology & Hepatology|October 3, 2023
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standardsHolm H Uhlig, Claire Booth, Judy Cho, et al.
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