Search Results - "ElAmin, Tanziel"
-
1
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis
Published in Blood research (30-06-2021)“…Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi…”
Get full text
Journal Article -
2
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
Published in iScience (19-03-2021)“…Autosomal recessive mutations in G6PC3 cause isolated and syndromic congenital neutropenia which includes congenital heart disease and atypical inflammatory…”
Get full text
Journal Article -
3
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Published in Genome Biology (26-06-2015)“…To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a…”
Get full text
Journal Article -
4
Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Published in Genome Biology (13-10-2015)Get full text
Journal Article