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TÍTULO: Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants  Full Text
AUTORES: Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Desir, Julie; Depasse, Fanny; Van de Sompele, Stijn; Van Heetvelde, Mattias; De Bruyne, Marieke; Andrieu, Camille; Condroyer, Christel; Antonio, Aline; Hufnagel, Robert; Carvalho, Ana Luisa; Marques, Joao Pedro; Zeitz, Christina; De Baere, Elfride; Damme, Markus; ...Mais
PUBLICAÇÃO: 2024, FONTE: CLINICAL GENETICS
INDEXADO EM: Scopus WOS
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TÍTULO: Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes  Full Text
AUTORES: Frauke Coppieters; Ingele Casteels; Francoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valerie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; Heidi Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere;
PUBLICAÇÃO: 2010, FONTE: HUMAN MUTATION, VOLUME: 31, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef