Detalhe da pesquisa
1.
Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nat Immunol
; 23(5): 815, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332329
2.
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nat Immunol
; 13(6): 612-20, 2012 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581261
3.
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Hum Mutat
; 43(12): e24-e37, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177613
4.
Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.
J Proteome Res
; 20(1): 549-564, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089695
5.
A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.
Kidney Int
; 100(2): 415-429, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675844
6.
Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function.
Metabolomics
; 17(1): 4, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33394183
7.
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
J Allergy Clin Immunol
; 146(1): 192-202, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862378
8.
Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis.
J Proteome Res
; 19(6): 2346-2357, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312052
9.
A genomics approach to male infertility.
Genet Med
; 22(12): 1967-1975, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719396
10.
Metabolomics toward personalized medicine.
Mass Spectrom Rev
; 38(3): 221-238, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073341
11.
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
Acta Haematol
; 143(6): 583-593, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32541138
12.
Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.
Int J Mol Sci
; 21(19)2020 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050003
13.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509102
14.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
15.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561787
16.
Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.
Allergy
; 74(2): 370-379, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252138
17.
Proteomic Analysis of Morphologically Changed Tissues after Prolonged Dexamethasone Treatment.
Int J Mol Sci
; 20(13)2019 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31247941
18.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
19.
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
Mol Ther
; 25(5): 1199-1208, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341561
20.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
J Allergy Clin Immunol
; 137(6): 1780-1787, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915675