Results 161 to 170 of about 2,252,434 (232)

Pendred's Syndrome

The Ewha Medical Journal, 1994
openaire   +1 more source

Pendred's syndrome.

Indian pediatrics, 1967
K N, Dogra, O P, Thaman
openaire   +1 more source

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the gene [PDF]

core   +1 more source

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome [PDF]

, 2009
Silvia Dossena, Simona Rodighiero, Valeria Vezzoli, Charity Nofziger, Elisabetta Salvioni, Marta Boccazzi, Elisabeth Grabmayer, Guido Fernando Botta, G. Meyer, Laura Fugazzola, Paolo Beck‐Peccoz, Markus Paulmichl   +11 more
openalex   +1 more source

Life-threatening metabolic alkalosis in Pendred syndrome. [PDF]

Eur J Endocrinol, 2011
Kandasamy N, Fugazzola L, Evans M, Chatterjee K, Karet F.   +4 more
europepmc   +1 more source

Functional Characterization of Wild-Type and a Mutated Form of SLC26A4 Identified in a Patient with Pendred Syndrome [PDF]

, 2006
Silvia Dossena, Valeria Vezzoli, Nadia Cerutti, Claudia Bazzini, M. Tosco, Chiara Sironi, Simona Rodighiero, G. Meyer, Umberto Fascio, Johannes Fürst, Markus Ritter, Laura Fugazzola, Luca Persani, Patrick Zorowka, Carlo Storelli, Paolo Beck- Peccoz, Guido Fernando Botta, Markus Paulmichl   +17 more
openalex   +1 more source

Supplementary Material for: Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

, 2009
Chen‐Chi Wu, Yining Lu, Pei‐Jer Chen, Po-Lin Yeh, Yi‐Ning Su, Wuh‐Liang Hwu, Chuan‐Jen Hsu   +6 more
openalex   +1 more source

Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome

, 2016
Tetsuya Mizokami, Akira Hishinuma, Takahiko Kogai, Katsuhiko Hamada, Tetsushi Maruta, K Higashi, Junichi Tajiri   +6 more
openalex   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study. [PDF]

Front Genet
Liu C, Huang Y, Fu A, Wang Y, Wu J, Zhang Y, Du L, Ding H, Yu L, Li F, Qi Y, Liu Y, Wang X, Zeng Y, Liu L, Xiong Y, Liu Y, Zhao X, Fang L, Jian J, Yin A, You Y.   +21 more
europepmc   +1 more source

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

core   +1 more source