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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

artículo científico publicado en 2012

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1

scientific article published on 01 November 2019

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Single tube multiplex PCR assay for the identification of banned meat species

scientific article published on 18 June 2020

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