Results 131 to 140 of about 7,226 (202)

Postnatal expression of transport proteins involved in acid-base transport in mouse kidney [PDF]

, 2018
The kidney plays a major role in maintaining and controlling systemic acid-base homeostasis by reabsorbing bicarbonate and secreting protons and acid-equivalents, respectively.
Bonnici, Brenda, Wagner, Carsten
core  

Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]

Int J Mol Sci
Danilchenko VY, Panina EA, Zytzar MV, Orishchenko KE, Posukh OL.   +4 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

[Difference of SLC26A4 gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2021
Liu Y, Huang Z, Sun C, Shen X, Li W, Li Q.   +5 more
europepmc   +1 more source

[Analysis and clinical characteristics of <i>SLC26A4</i> gene mutations in 72 cases of large vestibular aqueduct syndrome]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Liu Y, Xiong W, Lu Y, Liang L, Yang K, Lan L, Han W, Ye Q, Wang M, Zhang Y, Tao F, Cao Z, Huang W, Yang X.   +13 more
europepmc   +1 more source

Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct. [PDF]

Hum Mutat
Tian Y, Liu M, Lu Y, Zhao X, Yan Z, Sun Y, Ma J, Tang W, Wang H, Xu H.   +9 more
europepmc   +1 more source

Strong founder effect of p.P240L in in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population [PDF]

core   +1 more source

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. [PDF]

Hum Genomics
Gu X, Huang R, Xie J, Shi C, Zhang Y, Liang Z, Wang L, Xiao D, Yuan G, Li C, Chen J, Hao H.   +11 more
europepmc   +1 more source

Genetic Defects in Thyroid Hormone Supply. [PDF]

, 2018
Gianfranco Fenzi, Immacolata Cristina Nettore, Paolo emidio Macchia   +2 more
core  

Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China [PDF]

core   +1 more source