المؤلفون: Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/81719/1/20210204163755_601c14d320e8c.pdfTest; Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.; info:pmid/24959063; urn:ISSN:1090-0535

الإتاحة: https://edoc.unibas.ch/81719Test/
https://edoc.unibas.ch/81719/1/20210204163755_601c14d320e8c.pdfTest

المؤلفون: Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.

المصدر: Molecular Vision

مصطلحات موضوعية: Adult, Male, genetic structures, DNA Mutational Analysis, Mutation, Missense, Visual Acuity, Macular Degeneration, Young Adult, Electroretinography, Humans, Child, Genes, Dominant, Sequence Deletion, Optical Imaging, Retinal Degeneration, Middle Aged, eye diseases, Guanylate Cyclase-Activating Proteins, Pedigree, Retinal Cone Photoreceptor Cells, Female, sense organs, Visual Fields, Cone-Rod Dystrophies, Tomography, Optical Coherence, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4a90af3c6d637ecada92593125b5ea84Test
http://europepmc.org/articles/PMC5389339Test

المؤلفون: Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo

مصطلحات موضوعية: 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bfe3311e6723d5d95b8ccb7d2c8c1d8aTest