298 related articles for article (PubMed ID: 31129248)
21. Novel Mutations and Mutation Combinations of
Gao X; Yuan YY; Wang GJ; Xu JC; Su Y; Lin X; Dai P
Biomed Res Int; 2017; 2017():4707315. PubMed ID: 28246597
[TBL] [Abstract][Full Text] [Related]
22. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
Huang B; Liu Y; Gao X; Xu J; Dai P; Zhu Q; Yuan Y
BMC Med Genet; 2017 Mar; 18(1):36. PubMed ID: 28340560
[TBL] [Abstract][Full Text] [Related]
23. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S; Siddiqi S; Schraders M; Oostrik J; Ayub H; Bilal A; Ajmal M; Seco CZ; Strom TM; Mansoor A; Mazhar K; Shah ST; Hussain A; Azam M; Kremer H; Qamar R
PLoS One; 2014; 9(6):e100146. PubMed ID: 24949729
[TBL] [Abstract][Full Text] [Related]
24. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K; Lin S; Gao J; Chen S; Su J; Liu Z; Duan S
BMC Med Genomics; 2024 Jan; 17(1):4. PubMed ID: 38167320
[TBL] [Abstract][Full Text] [Related]
25. A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family.
Jiang H; Niu Y; Qu L; Huang X; Zhu X; Tang G
Biosci Trends; 2018; 12(5):470-475. PubMed ID: 30473554
[TBL] [Abstract][Full Text] [Related]
26. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Bakhchane A; Charoute H; Nahili H; Roky R; Rouba H; Charif M; Lenaers G; Barakat A
Gene; 2015 Dec; 574(1):28-33. PubMed ID: 26226225
[TBL] [Abstract][Full Text] [Related]
27. Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
Gao X; Zhu QY; Song YS; Wang GJ; Yuan YY; Xin F; Huang SS; Kang DY; Han MY; Guan LP; Zhang JG; Dai P
J Transl Med; 2013 Nov; 11():284. PubMed ID: 24206587
[TBL] [Abstract][Full Text] [Related]
28. Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.
Zhou H; Kuermanhan A; Zhang Z; Wang W; Dong J; Zhou Z; Mu J; Zhao L; Wang J; Li B; Chen B
Int J Pediatr Otorhinolaryngol; 2019 Oct; 125():128-132. PubMed ID: 31301639
[TBL] [Abstract][Full Text] [Related]
29. Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.
Zhao X; Cheng X; Huang L; Wang X; Wen C; Wang X
Biosci Trends; 2018; 12(5):502-506. PubMed ID: 30473558
[TBL] [Abstract][Full Text] [Related]
30. Compound Heterozygous Mutations in
Xu P; Xu J; Peng H; Yang T
Neural Plast; 2020; 2020():8872185. PubMed ID: 32802042
[TBL] [Abstract][Full Text] [Related]
31. [Spectrum of
Zheng BJ; Zhang T; Wang H; Tang XW; Zheng J; Lv JX; Guan MX
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Jun; 30(12):933-937. PubMed ID: 29771057
[No Abstract] [Full Text] [Related]
32. A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.
Asgharzade S; Tabatabaiefar MA; Mohammadi-Asl J; Chaleshtori MH
Int J Pediatr Otorhinolaryngol; 2018 May; 108():8-11. PubMed ID: 29605370
[TBL] [Abstract][Full Text] [Related]
33. Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
Tian T; Lu Y; Yao J; Cao X; Wei Q; Li Q
Genes Genet Syst; 2018 Dec; 93(5):171-179. PubMed ID: 30175721
[TBL] [Abstract][Full Text] [Related]
34. A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report.
Ma D; Shen S; Gao H; Guo H; Lin Y; Hu Y; Zhang R; Wang S
BMC Med Genet; 2018 Aug; 19(1):133. PubMed ID: 30068307
[TBL] [Abstract][Full Text] [Related]
35. Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
Bai X; Zhang F; Xiao Y; Jin Y; Zheng Q; Wang H; Xu L
J Cell Mol Med; 2020 Jun; 24(12):6978-6987. PubMed ID: 32390314
[TBL] [Abstract][Full Text] [Related]
36.
Xing G; Yao J; Liu C; Wei Q; Qian X; Wu L; Lu Y; Cao X
J Med Genet; 2017 Jun; 54(6):426-430. PubMed ID: 28096187
[TBL] [Abstract][Full Text] [Related]
37. GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M; Hashemzadeh-Chaleshtori M; Salehi M; Abtahi H; Reiisi S; Pourreza MR; Noori-Daloii MR; Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol; 2018 Apr; 107():121-126. PubMed ID: 29501291
[TBL] [Abstract][Full Text] [Related]
38. Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.
Ma Y; Xiao Y; Zhang F; Han Y; Li J; Xu L; Bai X; Wang H
Int J Pediatr Otorhinolaryngol; 2016 Apr; 83():179-85. PubMed ID: 26968074
[TBL] [Abstract][Full Text] [Related]
39. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Tlili A; Charfedine I; Lahmar I; Benzina Z; Mohamed BA; Weil D; Idriss N; Drira M; Masmoudi S; Ayadi H
Hum Mutat; 2005 May; 25(5):503. PubMed ID: 15841483
[TBL] [Abstract][Full Text] [Related]
40. Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.
Xia H; Xu H; Deng X; Yuan L; Xiong W; Yang Z; Deng H
Acta Otolaryngol; 2016 Aug; 136(8):782-5. PubMed ID: 27045574
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]