Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ewa Nowakowska-Szyrwinska"'
Autor:
Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin
Publikováno v:
American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics
Contains fulltext : 47828.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b088a403539b4866dcf8e41df96427b
https://pubmed.ncbi.nlm.nih.gov/16380907
https://pubmed.ncbi.nlm.nih.gov/16380907
Publikováno v:
Medycyna wieku rozwojowego. 7(4 Pt 2)
THE AIM of this work was an evaluation of the rehabilitation results in a group of patients with a prelingual deafness DFNB1 type.50 patients examined, aged 12-15 years with non syndromic prelingual deafness. All patients were qualified on the basis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f9811f74de3cc1ff4ef2a3d942cf502
https://pubmed.ncbi.nlm.nih.gov/15213378
https://pubmed.ncbi.nlm.nih.gov/15213378
Publikováno v:
Medycyna wieku rozwojowego. 7(1)
We present the results of complex clinical examination of children affected with sensorineural hearing loss. The siblings (minimum two) were born from unaffected parents and came from twelve families. Molecular studies confirmed genetic background of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e3ac13b3e272bd929e98faf926f75650
https://pubmed.ncbi.nlm.nih.gov/13130165
https://pubmed.ncbi.nlm.nih.gov/13130165