Detalhe da pesquisa
1.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600779
2.
Defining a new immune deficiency syndrome: MAN2B2-CDG.
J Allergy Clin Immunol
; 145(3): 1008-1011, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775018
3.
Consanguinity and primary immunodeficiencies.
Hum Hered
; 77(1-4): 138-43, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060276
4.
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
J Allergy Clin Immunol
; 143(2): 782-785.e1, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30312704
5.
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.
J Allergy Clin Immunol
; 140(1): 268-271.e6, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27956217
6.
A novel mutation in the POLE2 gene causing combined immunodeficiency.
J Allergy Clin Immunol
; 137(2): 635-638.e1, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365386
7.
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
J Clin Invest
; 126(11): 4219-4236, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760045