Results 101 to 110 of about 22,061 (138)

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review. [PDF]

J Infect Dis
Gélin M, Launay É, Vince N.
europepmc   +1 more source

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

A stepwise diagnostic framework for recurrent unexplained fever in adults: an evidence-based review with focus on Latin America. [PDF]

Clinics (Sao Paulo)
Favarato MH, Aguiar VLP, Paiva EF, Mendonça LO.   +3 more
europepmc   +1 more source

Not getting the nod: The case against Yao syndrome. [PDF]

J Hum Immun
Gray PE, Masters SL, Kirk EP.
europepmc   +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

Adult-onset STING-associated vasculopathy. [PDF]

J Hum Immun
Riley TR, Kotzin JJ, Park DJ, Banerjee S, Takanohashi A, Vanderver A, Penn Medicine Biobank, Baker JF, Finck AV, Miner JJ.   +9 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

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
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