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AJP Reports|December 3, 2014
Microvillus inclusion disease associated with necrotizing enterocolitis in a premature infantErsin Sayar, Salih Kalay, Aygen Yilmaz, et al.Journal of Pediatric Hematology/Oncology|April 24, 2018
Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?Dilara F Kocacik Uygun, Vedat Uygun, Hayriye Daloğlu, et al.Inflammatory Bowel Diseases|December 6, 2014
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotypeNina Kathrin Serwas, Aydan Kansu, Elisangela Santos-Valente, et al.American Journal of Human Genetics|March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndromeAlexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.The Journal of Allergy and Clinical Immunology. in Practice|March 28, 2025
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 DeficiencyMelek Yorgun Altunbas, Hubert Kogler, Hassan Abolhassani, et al.Nature Immunology|December 23, 2021
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory diseaseSatoshi Kubo, Jill M Fritz, Hayley M Raquer-McKay, et al.Nature Immunology|January 5, 2021
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE diseaseAhmet Ozen, Nurhan Kasap, Ivan Vujkovic-Cvijin, et al.Pageof 2