Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Sarosiak A"'
Autor:
Dominika Oziębło, Marcin L. Leja, Michal Lazniewski, Anna Sarosiak, Grażyna Tacikowska, Krzysztof Kochanek, Dariusz Plewczynski, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked wi
Externí odkaz:
https://doaj.org/article/d17fac3e3c4a4413a34c33aa3fb78490
Autor:
Sarosiak, A.1, Jędrychowska, J.2, Oziębło, D.1, Gan, N.1,3, Bałdyga, N.1,3, Leja, M. L.1, Węgierski, T.2, Cruz, I. A.4, Raible, D. W.4,5, Skarzynski, H.6, Tylzanowski, P.7,8, Korzh, V.2, Ołdak, M.1,9
Publikováno v:
Journal of Hearing Science. Sep2024, Vol. 14 Issue 3, p120-120. 3/4p.
Autor:
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal do
Externí odkaz:
https://doaj.org/article/17da04a1ee254f68b28f3cc9c56e9868
Autor:
Dominika Oziębło, Sang‐Yeon Lee, Marcin Ludwik Leja, Anna Sarosiak, Natalia Bałdyga, Henryk Skarżyński, Yehree Kim, Jin Hee Han, Hyo Soon Yoo, Min Hyun Park, Byung Yoon Choi, Monika Ołdak
Publikováno v:
Human Genetics. 141:445-453
Novel hearing loss (HL) genes are constantly being discovered, and evidence from independent studies is essential to strengthen their position as causes of hereditary HL. To address this issue, we searched our genetic data of families with autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e79255621a0db05338a4cf9749224b2
https://doi.org/10.1007/s00439-022-02443-y
https://doi.org/10.1007/s00439-022-02443-y
Autor:
Dominika Oziębło, Marcin Leja, Natalia Bałdyga, Anna Sarosiak, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Journal of Hearing Science. 11:72-76
BackgroundGenetically determined hearing loss (HL) can be inherited in two major ways - autosomal recessive or dominant. Autosomal dominant hearing loss (ADHL) is usually postlingual and progressive. To date, 50 different genes have been demonstrated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f94f2f8e0124f33e316b56a8447dec3
https://doi.org/10.17430/jhs.2021.11.4.8
https://doi.org/10.17430/jhs.2021.11.4.8
Autor:
Sarosiak, Anna1,2 (AUTHOR), Oziębło, Dominika1,2 (AUTHOR), Udziela, Monika3 (AUTHOR), Vermeer, Cees4 (AUTHOR), Malejczyk, Jacek1 (AUTHOR), Szaflik, Jacek P.3 (AUTHOR), Ołdak, Monika1 (AUTHOR) monika.oldak@wum.edu.pl
Publikováno v:
Acta Ophthalmologica (1755375X). Mar2021, Vol. 99 Issue 2, pe171-e177. 7p.
Akademický článek
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Publikováno v:
Journal of Hearing Science; Sep2024, Vol. 14 Issue 3, p94-94, 1/3p
Autor:
Sarosiak, Anna1,2, Ołdak, Monika1,3 m.oldak@ifps.org.pl
Publikováno v:
Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej. 2018, Vol. 72, p116-130. 15p.
Autor:
Monika Ołdak, Marcin L. Leja, Dariusz Plewczynski, Krzysztof Kochanek, Grażyna Tacikowska, Michal Lazniewski, Anna Sarosiak, Henryk Skarżyński, Dominika Oziębło
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked with postli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3bbaa94ad40e0ba05aa33323dc2a1d
https://pubmed.ncbi.nlm.nih.gov/33986365
https://pubmed.ncbi.nlm.nih.gov/33986365