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
em 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
em 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
em Inglês
| MEDLINE | ID: mdl-37311648
4.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
5.
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Ann Hum Genet
; 86(6): 291-296, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36039988
6.
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Hum Genet
; 141(3-4): 413-430, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291353
7.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710394
8.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226616
9.
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
em Inglês
| MEDLINE | ID: mdl-33879837
10.
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 65(2): 187-192, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656313
11.
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Exp Mol Pathol
; 115: 104471, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446860
12.
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
13.
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Hum Mutat
; 40(8): 1156-1171, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009165
14.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet
; 138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982135
15.
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
16.
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
J Hum Genet
; 64(2): 153-160, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30498240
17.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Hum Genet
; 137(9): 735-752, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167849
18.
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
BMC Med Genet
; 19(1): 122, 2018 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30029624
19.
Depression, malnutrition, and health-related quality of life among Nepali older patients.
BMC Geriatr
; 18(1): 191, 2018 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143004
20.
Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 67(3): 181, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526652