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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; Valerie Serre; Xavier Gerard; Clarisse Baumann; Ghislaine Plessis; Benedicte Demeer; Lionel Bretillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean Michel Rozet; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
INDEXED IN: Scopus WOS
3
TITLE: Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism  Full Text
AUTHORS: Ana Beleza Meireles; Eunice Matoso; Lina Ramos; Joana B Melo ; Isabel M Carreira ; Eduardo D Silva ; Jorge M Saraiva;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161A, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
4
TITLE: Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
AUTHORS: Violante, IR ; Ribeiro, MJ ; Silva, ED ; Castelo Branco, M ;
PUBLISHED: 2013, SOURCE: Journal of Neurodevelopmental Disorders in JOURNAL OF NEURODEVELOPMENTAL DISORDERS, VOLUME: 5, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
6
TITLE: Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level  Full Text
AUTHORS: Aldina Reis ; Catarina Mateus; Teresa Viegas; Ralph Florijn; Arthur Bergen; Eduardo Silva ; Miguel Castelo Branco ;
PUBLISHED: 2013, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, VOLUME: 251, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
7
TITLE: Risk of multiple sclerosis after optic neuritis in patients with normal baseline brain MRI  Full Text
AUTHORS: Marques, IB; Matias, F; Silva, ED ; Cunha, L; Sousa, L;
PUBLISHED: 2013, SOURCE: Journal of Clinical Neuroscience, VOLUME: 21, ISSUE: 4
INDEXED IN: Scopus CrossRef
IN MY: ORCID
8
TITLE: The ciliopathies and their relationship with ophthalmology [Ciliopatías y su relación con la oftalmología]
AUTHORS: Silva, ED ; Pinazo Duran, MD;
PUBLISHED: 2013, SOURCE: Archivos de la Sociedad Espanola de Oftalmologia, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus
9
TITLE: Abnormal Achromatic and Chromatic Contrast Sensitivity in Neurofibromatosis Type 1
AUTHORS: Ribeiro, MJ ; Violante, IR ; Ribeiro, I; Bernardino, I; Ramos, F; Saraiva, J; Reviriego, P; Upadhyaya, M; Silva, ED ; Castelo Branco, M ;
PUBLISHED: 2012, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 53, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
10
TITLE: Abnormal Brain Activation in Neurofibromatosis Type 1: A Link between Visual Processing and the Default Mode Network
AUTHORS: Violante, IR ; Ribeiro, MJ ; Cunha, G; Bernardino, I; Duarte, JV; Ramos, F; Saraiva, J; Silva, E ; Castelo Branco, M ;
PUBLISHED: 2012, SOURCE: PLoS One in PLOS ONE, VOLUME: 7, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
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