Results 91 to 100 of about 514 (125)

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

Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs. [PDF]

Int J Mol Sci
Lee D, Hong JH.
europepmc   +1 more source

Gene, Pendred Syndrome and Non-Syndromic Deafness (DFNB4)

, 2000
E.R. Wilcox, X.C. Li, E.D. Green, L.A. Everett, A.K. Lalwani   +4 more
core   +1 more source

The Cochlear Lateral Wall as a Biological Battery: the Mechanisms Underlying K⁺ Transport and Potential Generation. [PDF]

J Assoc Res Otolaryngol
Nin F, Hibino H.
europepmc   +1 more source

A Practical Diagnostic Approach to Pediatric Episodic Vestibular Syndrome. [PDF]

Children (Basel)
Rey-Berenguel M, Espinosa-Sanchez JM.
europepmc   +1 more source

Reevaluation of Enlarged Vestibular Aqueduct.

JAMA Otolaryngol Head Neck Surg
Huang S, Gao X, Jiang Y, Guo C, Li X, Wang G, Han M, Zhang X, Yang S, Wang Q, Zhao C, Yang J, Kang D, Dai P, Yuan Y.   +14 more
europepmc   +1 more source

Research hotspots and trends of the <i>SLC26A4</i> gene-related hearing loss from the perspective of knowledge graph. [PDF]

Intractable Rare Dis Res
Li Y, Wen C, Yu Y, Deng L, Gao S, Huang L.   +5 more
europepmc   +1 more source

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families. [PDF]

Mol Biol Rep
Jagannath K, Bhat N, Ghosh A, Tawade H, Cherian S, Shettigar S.   +5 more
europepmc   +1 more source

Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of the <i>SLC26A4</i> c.919-2A>G Variant. [PDF]

Int J Mol Sci
Ho CH, Tsai CY, Chang CC, Hu CJ, Huang CY, Lu YC, Lin PH, Lin CH, Lin HI, OuYang CH, Hsu CJ, Liu TC, Chen YT, Chan YH, Cheng YF, Wu CC.   +15 more
europepmc   +1 more source