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Different HLA class IA region complotypes for HLA-A29.2 and -A29.1 antigens, identical in birdshot retinochoroidopathy patients or healthy individuals. [electronic resource] by
- Donvito, Béatrice
- Monnet, Dominique
- Tabary, Thierry
- Delair, Emmanuelle
- Vittier, Mélanie
- Réveil, Brigitte
- Sivaradjam, Radjagourou
- Edelson, Catherine
- Philbert, Frédérique
- Brézin, Antoine P
- Cohen, Jacques H M
Producer: 20051102
In:
Investigative ophthalmology & visual science vol. 46
Availability: No items available.
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. [electronic resource] by
- Perrault, Isabelle
- Hanein, Sylvain
- Zanlonghi, Xavier
- Serre, Valérie
- Nicouleau, Michael
- Defoort-Delhemmes, Sabine
- Delphin, Nathalie
- Fares-Taie, Lucas
- Gerber, Sylvie
- Xerri, Olivia
- Edelson, Catherine
- Goldenberg, Alice
- Duncombe, Alice
- Le Meur, Gylène
- Hamel, Christian
- Silva, Eduardo
- Nitschke, Patrick
- Calvas, Patrick
- Munnich, Arnold
- Roche, Olivier
- Dollfus, Hélène
- Kaplan, Josseline
- Rozet, Jean-Michel
Producer: 20121119
In:
Nature genetics vol. 44
Availability: No items available.
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11.
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Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. [electronic resource] by
- Perrault, Isabelle
- Estrada-Cuzcano, Alejandro
- Lopez, Irma
- Kohl, Susanne
- Li, Shiqiang
- Testa, Francesco
- Zekveld-Vroon, Renate
- Wang, Xia
- Pomares, Esther
- Andorf, Jean
- Aboussair, Nisrine
- Banfi, Sandro
- Delphin, Nathalie
- den Hollander, Anneke I
- Edelson, Catherine
- Florijn, Ralph
- Jean-Pierre, Marc
- Leowski, Corinne
- Megarbane, Andre
- Villanueva, Cristina
- Flores, Blanca
- Munnich, Arnold
- Ren, Huanan
- Zobor, Ditta
- Bergen, Arthur
- Chen, Rui
- Cremers, Frans P M
- Gonzalez-Duarte, Roser
- Koenekoop, Robert K
- Simonelli, Francesca
- Stone, Edwin
- Wissinger, Bernd
- Zhang, Qingjiong
- Kaplan, Josseline
- Rozet, Jean-Michel
Producer: 20130701
In:
PloS one vol. 8
Availability: No items available.
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