Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
Mod Rheumatol
; 31(6): 1171-1178, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563058
5.
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
J Clin Immunol
; 40(8): 1103-1110, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851577
6.
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
Hum Genet
; 138(1): 105-107, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30483960
7.
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Hum Genet
; 138(3): 231-239, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778726
8.
Genomic and phenotypic delineation of congenital microcephaly.
Genet Med
; 21(3): 545-552, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214071
9.
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
BMC Med Genet
; 20(1): 119, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31272422
10.
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
11.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Am J Hum Genet
; 97(6): 862-8, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608784
12.
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis.
J Clin Immunol
; 43(7): 1529-1532, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291413
13.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
14.
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
J Clin Immunol
; 37(6): 575-581, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28741180
15.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Hum Genomics
; 10(1): 32, 2016 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671536
16.
Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?
Clin Exp Rheumatol
; 35(2): 327-329, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28134088
17.
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
BMC Genomics
; 17(Suppl 9): 749, 2016 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766953
18.
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Hum Genet
; 135(5): 525-540, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023906
19.
ADAT3-related intellectual disability: Further delineation of the phenotype.
Am J Med Genet A
; 170A(5): 1142-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842963
20.
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
BMC Neurol
; 16: 105, 2016 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27422383