Results 81 to 90 of about 22,061 (138)

Sleep-disordered breathing in children with neurodisabilities. [PDF]

Eur Respir Rev
Vanhaverbeke K, Selçuk M, Ersu R, Tan HL.   +3 more
europepmc   +1 more source

Performance of ChatGPT-4o in Providing Information on Pediatric Inborn Errors of Immunity: A Cross-Sectional Evaluation. [PDF]

J Clin Med
Taşkırdı İ, Şenbaykal Yiğit E, Eren Akarcan S, Tuncel T.   +3 more
europepmc   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
europepmc   +1 more source

Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025). [PDF]

Orphanet J Rare Dis
Wu Q, Gao J, Yuan Y, Yang H, Fu Q.
europepmc   +1 more source

Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature. [PDF]

J Infect Dis
Wang C, Filippov E, Seyedmousavi A, Kleiner DE, Rai A, Heller T, Dias AL, Gonzalez CE, Arnold DE, Dimitrova D, Malech HL, Pai SY, Notarangelo LD, Holland SM, Uzel G, Cuellar-Rodriguez J, Freeman AF, Czech MM.   +17 more
europepmc   +1 more source

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Kılıç M.
europepmc   +1 more source

STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings. [PDF]

Eur J Med Genet
Bloom AS, Amendola LM, Reynolds-Lallement N, Urban A, Freeman AF, Walkiewicz MA, Similuk MN.   +6 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients. [PDF]

J Hum Immun
Rojas J, Arango-Franco CA, Moncada-Velez M, Arboleda DM, Figueredo EA, Molina M, Sánchez JP, Zapata LM, Diaz PC, Álvarez JA, Serna-Arbelaez MS, Pérez Zapata LJ, Vélez G, Soudée C, Alzate JF, Cabarcas F, Obando Gil C, Garcés C, Alvarez-Olmos MI, Pérez-Camacho PM, Medina-Valencia D, Patiño-Niño JA, Rendón JP, Ortega-López MC, Cano LE, López JF, Estupiñán FM, Chaparro M, Niño L, Escobar AF, Casanova JL, Boisson-Dupuis S, Puel A, Olmos C, Sosa LM, Sarmiento-Wilches PE, Muñoz C, Orrego JC, López JÁ, Olaya-Hernández M, Builes N, Vásquez-Echeverri E, Vélez-Tirado N, Franco JL, Castaño-Jaramillo LM, Bustamante J, Arias AA.   +46 more
europepmc   +1 more source

Anti-granulocyte macrophage colony-stimulating factor autoantibodies: A rising cause of infectious diseases. [PDF]

PLoS Pathog
Wang SY, Lo YF, Tsai YH, Ku CL.
europepmc   +1 more source