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A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.

artículo científico publicado en 2018

A Novel Aberrant Splice Site Mutation in <b><i>RAB23</i></b> Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family ⬇️

artículo científico publicado el 1 de diciembre de 2012

A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

artículo científico publicado en 2017

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

artículo científico publicado en 2014

Correction: A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer.

artículo científico publicado en 2017

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

artículo científico publicado en 2017

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

artículo científico publicado en 2015

Identification of the Cellular Mechanisms That Modulate Trafficking of Frizzled Family Receptor 4 (FZD4) Missense Mutants Associated With Familial Exudative Vitreoretinopathy

article

Mutation spectrum of Joubert syndrome and related disorders among Arabs

artículo científico publicado en 2014

Protein Kinase N1 control of androgen-responsive serum response factor action provides rationale for novel prostate cancer treatment strategy

scientific article published on 11 February 2019

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

scientific article published on 12 November 2014

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