Detalhe da pesquisa
1.
Development and evaluation of a genome-wide Coffee 8.5K SNP array and its application for high-density genetic mapping and for investigating the origin of Coffea arabica L.
Plant Biotechnol J
; 17(7): 1418-1430, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582651
2.
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.
J Clin Immunol
; 38(3): 278-282, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29589181
3.
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.
Am J Med Genet A
; 173(7): 1858-1865, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488400
4.
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.
Front Genet
; 10: 1024, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749832
5.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
Nat Med
; 25(12): 1873-1884, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31806906
6.
IRF4 haploinsufficiency in a family with Whipple's disease.
Elife
; 72018 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29537367
7.
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.
J Exp Med
; 215(10): 2567-2585, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143481
8.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Sci Immunol
; 3(24)2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907691
9.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
J Clin Invest
; 128(9): 3957-3975, 2018 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969437