Results 111 to 120 of about 64,666 (262)

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights. [PDF]

Life (Basel)
Napiorkowska-Baran K, Cofta S, Treichel P, Tykwinska M, Lis K, Matyja-Bednarczyk A, Szymczak B, Szota M, Slawatycki J, Kulakowski M, Bartuzi Z.   +10 more
europepmc   +1 more source

Inborn errors of canonical autophagy in neurodegenerative diseases. [PDF]

Hum Mol Genet
Freisem D, Hoenigsperger H, Catanese A, Sparrer KMJ.   +3 more
europepmc   +1 more source

Inborn errors of metabolism (IEM) and associated metabolic disturbances detected in a cohort of greek patients with autism spectrum disorder (ASD)

, 2012
Martha Spilitoti, Katerina Haidopoulou, E Frysira, Spyridon Metaxas-Armodoros, C. Jakobs, Sofia Spanou, Kathryn Gibson, Despoina Asprangathou, Athanasios Evangeliou, Ron A. Wevers, Eleni Bonti, Panagiotis Kardaras, Despoina Tramma, Aggelos Tsalkidis, Eleni Michailidi   +14 more
openalex   +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

Allocation of scarce resources when rationality is one of them: some consequences of cognitive inequalities for theory and policy [PDF]

"Rationality" is understood in the empirical sense of cognitive abilities of human brains for solving economic problems, and consequently recognized bounded in individually unequal ways.
Pelikan, Pavel
core   +1 more source

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity [PDF]

, 2017
Capucine Pïcard, H. Bobby Gaspar, Waleed Al–Herz, Aziz Bousfiha, Jean‐Laurent Casanova, Talal A. Chatila, Yanick J. Crow, Charlotte Cunningham‐Rundles, Amos Etzioni, José Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Éric Oksenhendler, Jennifer M. Puck, Mimi L.K. Tang, Stuart G. Tangye, Troy R. Torgerson, Kathleen E. Sullivan   +19 more
openalex   +1 more source

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

, 2021
Kate F. Kernan, Lina Ghaloul‐Gonzalez, Jerry Vockley, Janette Lamb, Debborah Hollingshead, Uma Chandran, Rahil Sethi, Hyun Jung Park, Robert A. Berg, David Wessel, Murray M. Pollack, Kathleen L. Meert, Mark Hall, Christopher Newth, John C. Lin, Allan Doctor, Thomas P. Shanley, Tim Cornell, Rick Harrison, Athena F. Zuppa, Russel Banks, Ron Reeder, Richard Holubkov, Daniel A. Notterman, J. Michael Dean, Joseph A. Carcillo   +25 more
openalex   +1 more source

Endocrine Disorders in Patients With Inborn Errors of Immunity. [PDF]

J Korean Med Sci
Noh ES, Kim DR, Im M, Kim I, Sung J, Ahn YJ, Shin A, Kim KR, Park H, Kim G, Jin SM, Hur KY, Kim J, Ahn K, Yoo KH, Cho SY, Kim YJ.   +16 more
europepmc   +1 more source

Autoimmune thyroid disease in inborn errors of immunity: a retrospective perspective. [PDF]

Orphanet J Rare Dis
Bayrak Durmaz MS, Ozdel Ozturk B, Gorgulu Akin B, Kalkan F, Soyyiğit S.   +4 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core