Detalhe da pesquisa
1.
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
Am J Med Genet A
; 194(6): e63563, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352997
2.
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
J Hum Genet
; 68(10): 657-669, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217689
3.
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Proc Natl Acad Sci U S A
; 116(4): 1347-1352, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610177
4.
FOXF2 is required for cochlear development in humans and mice.
Hum Mol Genet
; 28(8): 1286-1297, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561639
5.
Determining host factors contributing to disease severity in a family cluster of 29 hospitalized SARS-CoV-2 patients: Could genetic factors be relevant in the clinical course of COVID-19?
J Med Virol
; 93(1): 357-365, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492209
6.
The Diagnostic and Predictive Roles of Neutrophil-Lymphocyte Ratio for Severity of Disease in COVID-19 Patients.
Clin Lab
; 67(12)2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34910428
7.
Peripheral neuropathy in Tangier disease: A literature review and assessment.
J Peripher Nerv Syst
; 23(2): 88-98, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582519
8.
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
Sci Rep
; 13(1): 17010, 2023 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814107
9.
COVID-19 seroconversion in the aircrew from Turkey.
Travel Med Infect Dis
; 44: 102190, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743957
10.
The relationship between positivity for COVID-19 RT-PCR and symptoms, clinical findings, and mortality in Turkey.
Expert Rev Mol Diagn
; 21(2): 245-250, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496627
11.
Molecular Heterogeneity in Cystic Fibrosis.
J Pediatr Genet
; 9(3): 171-176, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32714617
12.
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Brain Dev
; 42(10): 756-761, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747156
13.
Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis.
Ophthalmic Genet
; 41(1): 79-82, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083505
14.
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Genes (Basel)
; 11(4)2020 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32224865
15.
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
J Clin Invest
; 130(8): 4213-4217, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369452
16.
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
PLoS One
; 13(11): e0208324, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500859