Results 101 to 110 of about 683 (138)

Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report. [PDF]

Front Pediatr
Yin J, Huang D, Liu Z, Zhu E, Zhang C, Wang L, Li B.   +6 more
europepmc   +1 more source

Common genetic etiologies of sensorineural hearing loss in Koreans. [PDF]

Genomics Inform
Jang SH, Yoon K, Gee HY.
europepmc   +1 more source

[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Su D, Lou F, Huang R, Li X, Lin K, Li G, Ma J.   +6 more
europepmc   +1 more source

A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4. [PDF]

Arch Iran Med
Zare Ashrafi F, Dorgaleleh S, Rezvani Rezvandeh R, Kazemi N, Azizi N, Edizadeh M, Azizi MH, Kahrizi K, Najmabadi H, Najafipour R, Mohseni M.   +10 more
europepmc   +1 more source

Next-generation sequencing improves precision medicine in hearing loss. [PDF]

Front Genet, 2023
Imizcoz T, Prieto-Matos C, Manrique-Huarte R, Calavia D, Huarte A, Pruneda PC, Ordoñez GR, Cañada-Higueras E, Patiño-García A, Alkorta-Aranburu G, Manrique Rodríguez M.   +10 more
europepmc   +1 more source

Bilateral vestibulopathy: a clinical update and proposed diagnostic algorithm. [PDF]

Front Neurol, 2023
van Stiphout L, Szmulewicz DJ, Guinand N, Fornos AP, Van Rompaey V, van de Berg R.   +5 more
europepmc   +1 more source

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population. [PDF]

Mol Diagn Ther
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B.   +14 more
europepmc   +1 more source

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay. [PDF]

BMC Med Genomics
Zhao Y, Long Y, Shi T, Ma X, Lian C, Wang H, Xu H, Yu L, Zhao X.   +8 more
europepmc   +1 more source

Pendred 症候群/DFNB4 (PDS) の変動性難聴の自然経過に関する検討

AUDIOLOGY JAPAN, 2017
openaire   +2 more sources

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases. [PDF]

Hum Genomics
Zhang X, Chen Q, Li J, Luo X, Luo J, Li J, Zeng Z, Wu Y, Zhang H, Dong Y.   +9 more
europepmc   +1 more source