Detalhe da pesquisa
1.
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
J Clin Immunol
; 44(7): 151, 2024 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38896336
2.
A homozygous truncating mutation of FGL2 is associated with immune dysregulation.
J Allergy Clin Immunol
; 151(2): 572-578.e1, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243222
3.
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
J Clin Immunol
; 43(2): 479-484, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348183
4.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 104(6): 1182-1201, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130284
5.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 105(4): 879, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585110
6.
STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease.
J Clin Immunol
; 39(8): 823-826, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444685
7.
A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.
Front Immunol
; 15: 1329610, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361950