Detalhe da pesquisa
1.
Syntaxin 4 is essential for hearing in human and zebrafish.
Hum Mol Genet
; 32(7): 1184-1192, 2023 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36355422
2.
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Am J Med Genet A
; 194(4): e63478, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37975178
3.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Clin Genet
; 104(4): 499-501, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37311648
4.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32978268
5.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34226616
6.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1009-1018, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33879837
7.
Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1019, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34135457
8.
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
Brain Commun
; 6(3): fcae142, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38712318
9.
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Biomed Res Int
; 2023: 9993801, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37090188
10.
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Eur J Hum Genet
; 31(11): 1270-1274, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37684519
11.
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.
Genes (Basel)
; 13(4)2022 04 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35456468
12.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Eur J Hum Genet
; 30(1): 42-52, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34837038
13.
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Mol Genet Genomic Med
; 10(3): e1866, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35150090
14.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Mol Genet Genomic Med
; 10(7): e1995, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35698919
15.
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.
BMC Med Genomics
; 15(1): 237, 2022 11 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36357908
16.
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Genes (Basel)
; 13(5)2022 04 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35627139
17.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Eur J Hum Genet
; 30(1): 22-33, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34135477
18.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Commun Biol
; 5(1): 369, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35440622
19.
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Exp Biol Med (Maywood)
; 246(13): 1524-1532, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33715530
20.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Genes (Basel)
; 12(11)2021 11 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34828371