Results 201 to 210 of about 161,807 (290)

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Proceedings of the National Academy of Sciences of the United States of America, 2009
U. Scholl, Murim Choi, Tiewen Liu, V. Ramaekers, M. Häusler, J. Grimmer, S. Tobe, Anita Farhi, C. Nelson-Williams, R. Lifton   +9 more
semanticscholar   +1 more source

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections [PDF]

, 2003
Bamiou, DE, Bhattacharya, SS, Bird, AC, Cheetham, ME, Downes, SM, Ebenezer, ND, Hardcastle, AJ, Holder, GE, Jenkins, SA, Patel, RJ, Webster, AR, Zito, I   +11 more
core   +2 more sources

13 INHERITED SUPERACTIVITY OF PRPP SYNTHETASE (PS): ASSOCIATION OF PURINE OVERPRODUCTION AND SENSORINEURAL DEAFNESS [PDF]

, 1988
Michael A. Becker, J C Puig, F Mateos, Manuel L. Jiménez, M Kim, H.Anne Slmmonds   +5 more
openalex   +1 more source

Acute Sensorineural Deafness Limited to Low Frequencies and Low Tone Sudden Deafness.

, 2002
Takashi Abe, Takashi Tsuiki
openalex   +2 more sources

Screening for sensorineural deafness by health visitors. The Steering Committee, Oxford Region Child Development Project. [PDF]

, 1990
Margaret Johnson, Hazel Ashurst
openalex   +1 more source

Familial Idiopathic Hypoparathyroidism Associated with Progressive Sensorineural Deafness

, 1983
Shigeru Yumita, Yohtaro Furukawa, Atsushi Sasaki, HYO EUY SOHN, Hiroshi Unakami, Ryo Miura, KAORU YOSHINAGA   +6 more
openalex   +2 more sources

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats [PDF]

, 1999
Maria Teresa Bassi, Raj Ramesar, Barbara Caciotti, Ingrid Winship, Alessandro De Grandi, Mirko Riboni, Philip L. Townes, Peter Beighton, Andrea Ballabio, Giuseppe Borsani   +9 more
openalex   +1 more source

A Case of Meningeal Carcinomatosis Presenting with the Primary Symptoms of Facial Palsy and Sensorineural Deafness

, 2006
Shunkichi Baba, Han Matsuda, Minoru Gotoh, Kenichi Shimada, Yukiko Yokoyama, Atsuko Sakanushi   +5 more
openalex   +2 more sources

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

Proceedings of the National Academy of Sciences of the United States of America, 2010
M. Reichold, A. Zdebik, E. Lieberer, Markus Rapedius, Katharina Schmidt, S. Bandulik, C. Sterner, I. Tegtmeier, D. Pentón, T. Baukrowitz, S. Hulton, R. Witzgall, B. Ben-Zeev, A. Howie, R. Kleta, D. Bockenhauer, R. Warth   +16 more
semanticscholar   +1 more source

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Nature Genetics, 2009
C. Lagresle-Peyrou, E. Six, C. Picard, F. Rieux-Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens-de Chappedelaine, E. Morillon, F. Valensi, K. Simon-Stoos, J. Mullikin, L. Noroski, C. Besse, N. Wulffraat, A. Ferster, M. Abecasis, F. Calvo, C. Petit, F. Candotti, L. Abel, A. Fischer, M. Cavazzana‐Calvo   +21 more
semanticscholar   +1 more source