Detalhe da pesquisa
1.
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Clin Genet
; 105(5): 584-586, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454547
2.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807241
3.
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Hum Genet
; 141(3-4): 805-819, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338890
4.
Variants of human CLDN9 cause mild to profound hearing loss.
Hum Mutat
; 42(10): 1321-1335, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265170
5.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Clin Genet
; 99(2): 226-235, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089500
6.
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Hum Mutat
; 40(2): 162-176, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30461122
7.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
8.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Am J Hum Genet
; 98(2): 331-8, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805784
9.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Hum Mutat
; 37(10): 991-1003, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375115
10.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Eur J Hum Genet
; 30(1): 42-52, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837038
11.
Oncogenic potential of Human Papillomavirus (HPV) and its relation with cervical cancer.
Virol J
; 8: 269, 2011 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21635792
12.
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Genes (Basel)
; 11(10)2020 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32987832