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Resultados 1-10 de 14.
Resultados por ítem:
Fecha de publicaciónTítuloAutor(es)
2015A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old childLopez Herrera, Gabriela
2012Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunityLopez Herrera, Gabriela
2016Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and ViangchanGómez Manzo, Saúl
2013Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeNakamura K
2016An uncommon inheritance pattern in Niemann-Pick disease type C: Identification of probable paternal germline mosaicism in a Mexican familyCervera Gaviria M.,
2008Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: Report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assayAlcántara Ortigoza, Miguel Ángel
2015Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID RegistryBorges de Oliveira-Junior, Edgar
2013Clinical and genetic analysis of patients with X-linked hyper-IgM syndromeVargas Hernadez A
2013IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation databaseVan De Vosse Esther
2013Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivationPiña Aguilar, Raúl E