Results 171 to 180 of about 2,252,434 (232)

The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)

, 2016
Т Г Маркова, E N Geptner, M.R. Lalayants, Е И Зеликович, T I Chugunova, О. Л. Миронович, E. A. Bliznetz, A. V. Polyakov, Г А Таварткиладзе   +8 more
openalex   +1 more source

Polyamine permeation and rectification of kir4.1 channels [PDF]

, 2007
Eaton, Misty J, Kucheryavykh, Yuri V, Kurata, Harley T, Nichols, Colin G, Pearson, Wade L, Skatchkov, Serguei N   +5 more
core   +2 more sources

Molecular analysis of genes related to Pendred syndrome in individuals with deafness and functional study of pendrin protein

, 2013
Vanessa Cristine Sousa de Moraes
openalex   +1 more source

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. [PDF]

J Mol Diagn, 2011
Chen N, Tranebjærg L, Rendtorff ND, Schrijver I.   +3 more
europepmc   +1 more source

Can Stem Cells Restore Hearing? A Narrative Review Exploring Regenerative Medicine for Congenital Hearing Loss. [PDF]

J Otol
Mughal A, Amanullah FS, Pasha HA, Kazmi SAM, Vardag ABS, Awan MS.   +5 more
europepmc   +1 more source

Genetic Defects in Thyroid Hormone Supply. [PDF]

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

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement. [PDF]

J Audiol Otol
Miolo G, Margiotta F, Murgia A, Puppa LD, Corona G.   +4 more
europepmc   +1 more source

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program. [PDF]

Nat Med
Cope HL, Jalazo ER, Berg JS, Sullivan JA, Kucera KS, Shone SM, Frawley HE, Gwaltney AY, Forsythe AN, Migliore BA, Wright B, Moultrie RR, Milko LV, Zimmerman RS, Kruszka P, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Guenzel AJ, McWalter K, Hruska KS, Bailey DB, Wheeler AC, Raspa M, Powell CM, Peay HL, Early Check Program.   +28 more
europepmc   +1 more source

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? [PDF]

J Med Genet, 2009
Madeo AC, Manichaikul A, Pryor SP, Griffith AJ.   +3 more
europepmc   +1 more source

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes. [PDF]

BMC Med Genomics
Bi J, Guo W, Ji P, Xie Y.
europepmc   +1 more source