Detalhe da pesquisa
1.
Qatar genome: Insights on genomics from the Middle East.
Hum Mutat
; 43(4): 499-510, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112413
2.
Willingness to participate in genome testing: a survey of public attitudes from Qatar.
J Hum Genet
; 65(12): 1067-1073, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724056
3.
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
J Hum Genet
; 64(4): 271-280, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670789
4.
First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes.
Cureus
; 12(11): e11571, 2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33282601