Results 101 to 110 of about 22,161 (138)

Examining the role of social workers within clinical metabolic genetics care. [PDF]

Mol Genet Metab Rep
Shim S, Cory D, Wixson G, Hata A, Werner-Lin A.   +4 more
europepmc   +1 more source

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results. [PDF]

J Clin Immunol
Bas I, Topyildiz E, Ulgen E, Sahin P, Tokgoz Erdis G, Durmaz A, Karaca NE, Aksu G, Aykut A, Kutukculer N.   +9 more
europepmc   +1 more source

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program. [PDF]

J Clin Immunol
Graafen L, Speckmann C, Bakhtiar S, Bernuth HV, Lehmberg K, Bader P, Baumann U, Beier R, Borte S, Brockow I, Davies EG, Hartmann M, Holzer U, Klemann C, Kreins AY, Krüger R, Kontny U, Laws HJ, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Schneider DT, Willasch A, Worth A, Seidel MG, Albert MH, Ehl S, Hauck F, Hönig M, Schulz A, Schuetz C, Ghosh S.   +32 more
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

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

No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism. [PDF]

NPJ Genom Med
Najera J, Mavura Y, Adhikari A, Kvale M, Gallagher RC, Risch N.   +5 more
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

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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