Results 121 to 130 of about 37,318 (190)

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity. [PDF]

Front Genet
Moushib LI, Moreno-Ruiz N, Martín-Nalda A, Rivière JG, Urban B, Dieli-Crimi R, Perurena-Prieto J, Aguiló-Cucurull A, Pérez-Estévez E, Solanich X, Soler-Palacín P, Colobran R, Batlle-Masó L.   +12 more
europepmc   +1 more source

Unexpected but not unexplained : investigating a case of sudden unexpected death in infancy [PDF]

Sidebotham, Peter
core   +1 more source

Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report. [PDF]

BMC Pediatr
Thaver S, Ebrahim M, Noorani M, Alimohamed ZM, Edward K, Furia F, Kwayu J, Fidaali Z, Abdallah Y.   +8 more
europepmc   +1 more source

Nerve growth factor (NGF) [PDF]

, 1989
Azzi, Angelo, Borasio, Gian Domenico, Drahota, S., Heumann, R., Lindholm, D., Papa, S., Thoenen, Hans   +6 more
core  

Cellular signatures of immune dysregulation in inborn errors of immunity: development of a quantitative immune balance score. [PDF]

Front Immunol
Inan D, Bildik HN, Ciftcier B, Akarsu A, Ocak M, Bolat AB, Cagdas D, Tezcan I, Halacli SO.   +8 more
europepmc   +1 more source

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges. [PDF]

Front Immunol
Bozkurt S, Ozturk N, Altunbas MY, Can S, Amirov R, Mahmudov R, Colak BC, Karabiber E, Baronio M, Lougaris V, Tessarin G, Bilgic-Eltan S, Ozen A, Baris S, Karakoc-Aydiner E.   +14 more
europepmc   +1 more source

Molecular genetics of common variable immunodeficiency

, 2017
Bogaert, Delfien, De Baere, Elfride, Dullaers, Melissa, Haerynck, Filomeen   +3 more
core   +1 more source

Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data. [PDF]

Cells
Jurczuk A, Bałdyga P, Płoński A, Jurczuk M, Garley M.   +4 more
europepmc   +1 more source

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source

Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID. [PDF]

Immunotargets Ther
Gualtiero G, Buso H, Coopmans EC, Milito C, Firinu D, Dalm VASH, Cinetto F.   +6 more
europepmc   +1 more source