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TITLE: Cultural Adaptation of the Portuguese Version of the "Sniffin' Sticks" Smell Test: Reliability, Validity, and Normative Data  Full Text
AUTHORS: Joao Carlos Ribeiro; Joao Simoes; Filipe Silva; Eduardo D Silva; Cornelia Hummel; Thomas Hummel; Antonio Paiva;
PUBLISHED: 2016, SOURCE: PLOS ONE, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 6
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TITLE: Accelerated age-related olfactory decline among type 1 Usher patients  Full Text
AUTHORS: Joao Carlos Ribeiro; Barbara Oliveiros ; Paulo Pereira; Natalia Antonio; Thomas Hummel; Antonio Paiva; Eduardo D Silva;
PUBLISHED: 2016, SOURCE: SCIENTIFIC REPORTS, VOLUME: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Possible Rare Congenital Dysinnervation Disorder: Congenital Ptosis Associated with Adduction  Full Text
AUTHORS: Silvia Mendes; Diana Beselga; Sonia Campos; Arminda Neves; Joana Campos; Silvia Carvalho; Eduardo Silva; Joao P C Paulo Castro Sousa;
PUBLISHED: 2015, SOURCE: STRABISMUS, VOLUME: 23, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
17
TITLE: AAO Task Force on Genetic Testing  Full Text
AUTHORS: Bronwyn Bateman; Eduardo Silva;
PUBLISHED: 2013, SOURCE: OPHTHALMOLOGY, VOLUME: 120, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
18
TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares-Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Sylvain Hanein; Eduardo Silva; Margaux Serey; Valérie Serre; Xavier Gérard; Clarisse Baumann; Ghislaine Plessis; Bénédicte Demeer; Lionel Brétillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet; ...More
PUBLISHED: 2013, SOURCE: The American Journal of Human Genetics, VOLUME: 92, ISSUE: 2
INDEXED IN: CrossRef: 47
IN MY: ORCID
19
TITLE: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTHORS: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; Christine Bole Feysot; Patrick Nitschke; Mohammed Zahrate; Philip Beales; Heleen H Arts; Arnold Munnich; Josseline Kaplan; Corinne Antignac; Valerie Cormier Daire; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 81
IN MY: ORCID
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TITLE: Antisense Oligonucleotide-Mediated Exon Skipping Restores Primary Cilia Assembly in Fibroblasts Harbouring the Common Leber Congenital Amaurosis CEP290 Mutation
AUTHORS: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLISHED: 2012, SOURCE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
INDEXED IN: WOS
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