Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Zuzanna Niedziela"'
Autor:
Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R. Krawczynski
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5759 (2024)
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex
Externí odkaz:
https://doaj.org/article/a5abbf4d9d5947d68d3b4161e94a8bca
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)
Abstract Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in th
Externí odkaz:
https://doaj.org/article/d7aac159211542d7afe3f813e23a5828
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in the pathoge
Publikováno v:
Klinika oczna. 118(3)
Background: Molecular analysis of the NDP gene to confirm and precise the clinical diagnosis in two patients with X-linked familial exudative vitreoretinopathy (XL-FEVR). Material and methods: We report two patients from unrelated families with NDP g
Autor:
Wawrocka, Anna1 (AUTHOR) aniawawrocka@ump.edu.pl, Walczak-Sztulpa, Joanna1 (AUTHOR) kuszel@ump.edu.pl, Kuszel, Lukasz1 (AUTHOR) askorczyk@ump.edu.pl, Niedziela-Schwartz, Zuzanna2 (AUTHOR) z.niedziela@gmail.com, Skorczyk-Werner, Anna1 (AUTHOR) mrkrawcz@ump.edu.pl, Bernardczyk-Meller, Jadwiga3 (AUTHOR) jbmeller@poczta.onet.pl, Krawczynski, Maciej R.1,4 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5759. 12p.
Autor:
Fischer, M. Dominik1,2,3 (AUTHOR) dominik.fischer@eye.ox.ac.uk, Simonelli, Francesca4 (AUTHOR) francesca.simonelli@unicampania.it, Sahni, Jayashree5 (AUTHOR) jayashree.sahni@novartis.com, Holz, Frank G.6 (AUTHOR) frank.holz@ukbonn.de, Maier, Rainer5 (AUTHOR) asuhner@yahoo.com, Fasser, Christina7 (AUTHOR) cfasser@e-link.ch, Suhner, Andrea5 (AUTHOR) dpstiehl@gmail.com, Stiehl, Daniel P.5 (AUTHOR), Chen, Bee8 (AUTHOR) blchen999@gmail.com, Audo, Isabelle9,10 (AUTHOR) isabelle.audo@inserm.fr, Leroy, Bart P.11,12 (AUTHOR) bart.leroy@ugent.be
Publikováno v:
Biomolecules (2218-273X). Jan2024, Vol. 14 Issue 1, p122. 15p.
Autor:
Skorczyk-Werner, Anna1 (AUTHOR) aniaskorczyk@poczta.onet.pl, Niedziela, Zuzanna1,2 (AUTHOR), Stopa, Marcin2 (AUTHOR), Krawczyński, Maciej Robert1,3 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 12/11/2020, Vol. 15 Issue 1, p1-19. 19p.
Publikováno v:
Genomics & Genetics Weekly; 7/5/2024, p1794-1794, 1p