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Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes. [electronic resource] by
- Vámos, Rita
- Külm, Maigi
- Szabó, Viktoria
- Ahman, Aune
- Lesch, Balázs
- Schneider, Miklós
- Varsányi, Balázs
- Nagy, Zoltán Zsolt
- Németh, János
- Farkas, Ágnes
Producer: 20160405
In:
European journal of ophthalmology vol. 26
Availability: No items available.
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Molecular epidemiology of Usher syndrome in Italy. [electronic resource] by
- Vozzi, Diego
- Aaspõllu, Anu
- Athanasakis, Emmanouil
- Berto, Anna
- Fabretto, Antonella
- Licastro, Danilo
- Külm, Maigi
- Testa, Francesco
- Trevisi, Patrizia
- Vahter, Marju
- Ziviello, Carmela
- Martini, Alessandro
- Simonelli, Francesca
- Banfi, Sandro
- Gasparini, Paolo
Producer: 20111114
In:
Molecular vision vol. 17
Availability: No items available.
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Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. [electronic resource] by
- Zernant, Jana
- Külm, Maigi
- Dharmaraj, Sharola
- den Hollander, Anneke I
- Perrault, Isabelle
- Preising, Markus N
- Lorenz, Birgit
- Kaplan, Josseline
- Cremers, Frans P M
- Maumenee, Irene
- Koenekoop, Robert K
- Allikmets, Rando
Producer: 20051102
In:
Investigative ophthalmology & visual science vol. 46
Availability: No items available.
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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. [electronic resource] by
- Jaijo, Teresa
- Aller, Elena
- García-García, Gema
- Aparisi, María J
- Bernal, Sara
- Avila-Fernández, Almudena
- Barragán, Isabel
- Baiget, Montserrat
- Ayuso, Carmen
- Antiñolo, Guillermo
- Díaz-Llopis, Manuel
- Külm, Maigi
- Beneyto, Magdalena
- Nájera, Carmen
- Millán, Jose M
Producer: 20100326
In:
Investigative ophthalmology & visual science vol. 51
Availability: No items available.
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Development of a genotyping microarray for Usher syndrome. [electronic resource] by
- Cremers, Frans P M
- Kimberling, William J
- Külm, Maigi
- de Brouwer, Arjan P
- van Wijk, Erwin
- te Brinke, Heleen
- Cremers, Cor W R J
- Hoefsloot, Lies H
- Banfi, Sandro
- Simonelli, Francesca
- Fleischhauer, Johannes C
- Berger, Wolfgang
- Kelley, Phil M
- Haralambous, Elene
- Bitner-Glindzicz, Maria
- Webster, Andrew R
- Saihan, Zubin
- De Baere, Elfride
- Leroy, Bart P
- Silvestri, Giuliana
- McKay, Gareth J
- Koenekoop, Robert K
- Millan, Jose M
- Rosenberg, Thomas
- Joensuu, Tarja
- Sankila, Eeva-Marja
- Weil, Dominique
- Weston, Mike D
- Wissinger, Bernd
- Kremer, Hannie
Producer: 20070607
In:
Journal of medical genetics vol. 44
Availability: No items available.
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