Detalhe da pesquisa
1.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
2.
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
PLoS Genet
; 16(9): e1009000, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925938
3.
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Hum Mol Genet
; 24(25): 7227-40, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26464484
4.
Specific antibody response of 14 patients with common variable immunodeficiency to 3 BNT162b2 messenger RNA coronavirus disease 2019 vaccinations.
Ann Allergy Asthma Immunol
; 129(1): 108-109, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35398265
5.
Specific antibody response of patients with common variable immunodeficiency to BNT162b2 coronavirus disease 2019 vaccination.
Ann Allergy Asthma Immunol
; 127(4): 501-503, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343675
6.
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.
J Physiol
; 593(24): 5299-312, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486891
7.
Congenital myopathy is caused by mutation of HACD1.
Hum Mol Genet
; 22(25): 5229-36, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933735
8.
Bronchiectasis with Chronic Rhinosinusitis Is Associated with Eosinophilic Airway Inflammation and Is Distinct from Asthma.
Ann Am Thorac Soc
; 21(5): 748-758, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194593
9.
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Hum Genet
; 129(4): 397-405, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21184099
10.
Exploring fear of childbirth in Kenya through evaluation of the readability of Wijma Delivery Expectancy/Experience Questionnaire Version A (W-DEQ-A).
Sex Reprod Healthc
; 28: 100605, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626433
11.
Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.
Res Pract Thromb Haemost
; 5(4): e12407, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34027285
12.
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.
Eur J Hum Genet
; 24(5): 666-71, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419279
13.
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Eur J Hum Genet
; 18(10): 1160-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20551992