Results 271 to 280 of about 4,846,243 (320)

The new frontier of newborn screening: integrating genomics, metabolomics, and data science for inborn errors of metabolism. [PDF]

Orphanet J Rare Dis
Wasim M, Wang Y, Ma G.
europepmc   +1 more source

In a nutshell: Pandora's Box-B-cell lymphoproliferation masking inborn errors of immunity. [PDF]

Br J Haematol
Sánchez-Ramón S, Bussel JB.
europepmc   +1 more source

Toward a monogenic architecture of human infections: From 1996 to 2026. [PDF]

J Hum Immun
Casanova JL.
europepmc   +1 more source

Cryptococcal Meningitis Revealing Late-Onset Combined Immunodeficiency After Two Decades of Recurrent Infections: A Case Report. [PDF]

Cureus
Martínez Evangelista VJ, Munoz Plascencia S, Cárdenas-Favela JC, Correa Serrano CA.   +3 more
europepmc   +1 more source

Disease associations for rare immune genetic variants require statistical or rule-based support. [PDF]

J Hum Immun
Gray PE, Tangye SG, Kirk EP.
europepmc   +1 more source

Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report. [PDF]

Front Med (Lausanne)
Puente C, Aldave Becerra JC.
europepmc   +1 more source

Impact of germline predisposition genes to hematologic malignancies on transplant outcomes and donor selection. [PDF]

Front Immunol
Li Z, Yang K, Zhang C, Wang X, Wang L, Li J, Wen X, Fei Q, Zhai J, Zhou Y, Ming Z, Song Y, Zhao Y, Wu T, Zheng Q.   +14 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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