Results 71 to 80 of about 22,161 (138)

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis. [PDF]

J Hum Immun
Yanes T, Cole T, Kane A, King J, Pinzon-Charry A, Hsiao KC, McNaughton P.   +6 more
europepmc   +1 more source

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report. [PDF]

J Clin Immunol
Arslan S, Sert A, Özçelik M, Barış S, Aydoğmuş Ç, Kaba Ö, Çil Yılmaz B, Erdil S, Yırgın K, Gökmirza P, Çatak MC.   +10 more
europepmc   +1 more source

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]

Front Genet
Kim Lien NT, Van Tung N, Minh Huong LT, Van Anh NT, Phuong Mai NT, Dien TM, Hien NT, Tao NT, Hoang NH.   +8 more
europepmc   +1 more source

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations. [PDF]

Int J Mol Sci
Pantea CL, Bataneant M, Jurcut C, Cochino A, Ioan A, Munteanu CV, Zimbru CG, Urtila P, Chirita-Emandi A.   +8 more
europepmc   +1 more source

Experiences from inborn errors of immunity registry of India: A preliminary report. [PDF]

Indian J Med Res
Yadav RM, Suri D, Singh S, Pandiarajan V, Satheesh C, Ranganath P, Gulati R, Puri RD, Temkar L, Khalkho P, Almas, Rajasekhar L, Raj R, Shukla A, Rawat A, Madkaikar M, NRROID Registry PID Contributors group.   +16 more
europepmc   +1 more source

Editorial: Genetics of pediatric immune-mediated diseases. [PDF]

Front Genet
Manti S, Marciano BE.
europepmc   +1 more source

Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity. [PDF]

Front Pediatr
Abinun M, Owens S.
europepmc   +1 more source

Building alliances for early detection of immunodeficiencies: from primary care to hematology. [PDF]

Front Immunol
Rivière JG, Pasquet M, Gambineri E.
europepmc   +1 more source

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients. [PDF]

Eur J Hum Genet
Faergeman SL, Andreasen L, Becher N, Christiansen M, Gravholt CH, Jensen UB, Jensen JMB, Larsen OH, Markholt S, Sandgaard KS, Vang S, Lildballe DL.   +11 more
europepmc   +1 more source