অনুসন্ধান ফলাফলগুলি - Isabelle Audo
- প্রদর্শন 1 - 20 ফলাফল এর 51
- পরবর্তী পৃষ্ঠায় যান
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Extensive Macular Atrophy with Pseudodrusen-like appearance অনুযায়ী Alessio Antropoli, Lorenzo Bianco, Christel Condroyer, Aline Antonio, Julien Navarro, Dorothée Dagostinoz, Amine Benadji, José‐Alain Sahel, Christina Zeitz, Isabelle Audo
প্রকাশিত 2024Artigo -
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study অনুযায়ী Catherine Vignal, Jean‐François Girmens, Isabelle Audo, Saddek Mohand Saïd, Marie‐Hélène Errera, Lise Plaine, Denis O’Shaughnessy, Magali Taiel, José‐Alain Sahel
প্রকাশিত 2021Artigo -
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<scp>LRIT</scp>3 is essential to localize <scp>TRPM</scp>1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation অনুযায়ী Marion Neuillé, Catherine W. Morgans, Yan Cao, Elise Orhan, Christelle Michiels, José‐Alain Sahel, Isabelle Audo, Robert M. Duvoisin, Kirill A. Martemyanov, Christina Zeitz
প্রকাশিত 2015Artigo -
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Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB) অনুযায়ী Marion Neuillé, Saïd El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie‐Elise Lancelot, Christel Condroyer, Kinga M. Bujakowska, Olivier Poch, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
প্রকাশিত 2014Artigo -
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<i>MERTK</i> mutation update in inherited retinal diseases অনুযায়ী Isabelle Audo, Saddek Mohand‐Saïd, Élise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Saïd El Shamieh, José‐Alain Sahel, Christina Zeitz
প্রকাশিত 2018Revisão -
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Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model অনুযায়ী Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José‐Alain Sahel, Muna I. Naash, Matthew M. LaVail, Christina Zeitz, Isabelle Audo
প্রকাশিত 2015Artigo -
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EYS is a major gene for rod-cone dystrophies in France অনুযায়ী Isabelle Audo, José‐Alain Sahel, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Veselina Moskova‐Doumanova, Emeline F. Nandrot, Jordan Doumanov, Isabel Barragán, Guillermo Antiñolo, Shomi S. Bhattacharya, Christina Zeitz
প্রকাশিত 2010Artigo -
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Evaluation of Retinal Function and Flicker Light-Induced Retinal Vascular Response in Normotensive Patients with Diabetes without Retinopathy অনুযায়ী A. Lecleire–Collet, Isabelle Audo, Mounir Aout, Jean‐François Girmens, R. Sofroni, Ali Erginay, Jean‐François Le Gargasson, Saddek Mohand‐Saïd, T. Méas, Pierre-Jean Guillausseau, Éric Vicaut, Michel Pâques, Pascale Massin
প্রকাশিত 2011Artigo -
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases অনুযায়ী Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean‐Paul Saraiva, Mélanie Letexier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
প্রকাশিত 2012Artigo -
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RNA-based therapies in inherited retinal diseases অনুযায়ী Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana Maria Ferraz Sallum, Katarína Štingl, Stephen H. Tsang, Paul Yang
প্রকাশিত 2022Revisão -
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<i>CRB1</i> mutations in inherited retinal dystrophies অনুযায়ী Kinga M. Bujakowska, Isabelle Audo, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean‐Paul Saraiva, Christine Lonjou, Wassila Carpentier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
প্রকাশিত 2011Revisão -
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Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort অনুযায়ী Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
প্রকাশিত 2021Artigo -
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation অনুযায়ী Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean‐Paul Saraiva, Mélanie Letexier, Eric H. Souied, Saddek Mohand‐Saïd, José‐Alain Sahel, Christina Zeitz, Isabelle Audo
প্রকাশিত 2015Artigo -
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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome অনুযায়ী Leonardo Colombo, Paolo Enrico Maltese, Marco Castori, Saïd El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, P Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
প্রকাশিত 2021Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9) অনুযায়ী Rupert W. Strauß, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Amir H Hariri, Muneeswar Gupta Nittala, Srinivas R. Sadda, Sheila K. West, Hendrik P. N. Scholl
প্রকাশিত 2017Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17) অনুযায়ী Rupert W. Strauß, Alexander Ho, Anamika Jha, Kaoru Fujinami, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Srinivas R. Sadda, Michael S. Ip, Sheila K. West, Etienne M. Schönbach, Xiangrong Kong, Hendrik P. N. Scholl
প্রকাশিত 2023Artigo -
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Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial অনুযায়ী Maria A. Parker, Dongseok Choi, Laura Erker, Mark E. Pennesi, Paul Yang, Elvira N. Chegarnov, Peter Steinkamp, Catherine L. Schlechter, Claire‐Marie Dhaenens, Saddek Mohand‐Saïd, Isabelle Audo, José‐Alain Sahel, Richard G. Weleber, David J. Wilson
প্রকাশিত 2016Artigo -
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Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue অনুযায়ী Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José‐Alain Sahel, Stéphane Fouquet, Gaël Orieux, Emeline F. Nandrot, Leah C. Byrne, Isabelle Audo, Jérôme E. Roger, Olivier Goureau
প্রকাশিত 2022Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Genetics
Gene
Medicine
Ophthalmology
Retinal
Mutation
Phenotype
Retinitis pigmentosa
Biochemistry
Internal medicine
Neuroscience
Optometry
Retinal degeneration
Macular degeneration
Missense mutation
Dystrophy
Pathology
Stargardt disease
ABCA4
Retina
Sanger sequencing
Visual acuity
Blindness
Chemistry
Computational biology
Disease
Electroretinography
Exome sequencing
Genotype