Hasil Pencarian - José M. Millán

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  1. 1
    Genetic Testing for Rare Diseases

    Genetic Testing for Rare Diseases oleh José M. Millán, Gema García-García

    Diterbitkan 2022-03-01
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  2. 2
    Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

    Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype oleh Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, Pilar Barberán-Martínez, José M. Millán, José M. Millán, José M. Millán, José M. Millán, Gema García-García, Gema García-García, Gema García-García, Cinthia Aguilera

    Diterbitkan 2024-02-01
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  3. 3
    Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?

    Editorial: Inherited retinal dystrophies: a light at the end of the tunnel? oleh Brian D. Perkins, Glenn P. Lobo, Altaf A. Kondkar, Jose M. Millan

    Diterbitkan 2023-10-01
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  4. 4
    An Update on the Genetics of Usher Syndrome

    An Update on the Genetics of Usher Syndrome oleh José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Diterbitkan 2011-01-01
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  5. 5
    Genetic Screening of the Usher Syndrome in Cuba

    Genetic Screening of the Usher Syndrome in Cuba oleh Elayne E. Santana, Carla Fuster-García, Carla Fuster-García, Elena Aller, Elena Aller, Teresa Jaijo, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, Gema García-García, José M. Millán, José M. Millán, Araceli Lantigua

    Diterbitkan 2019-05-01
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  6. 6
    Updating the Genetic Landscape of Inherited Retinal Dystrophies

    Updating the Genetic Landscape of Inherited Retinal Dystrophies oleh Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán

    Diterbitkan 2021-07-01
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  7. 7
    Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

    Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes oleh Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García

    Diterbitkan 2022-01-01
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  8. 8
    Usher Syndrome: Genetics of a Human Ciliopathy

    Usher Syndrome: Genetics of a Human Ciliopathy oleh Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García

    Diterbitkan 2021-06-01
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  9. 9
    Experience of targeted Usher exome sequencing as a clinical test

    Experience of targeted Usher exome sequencing as a clinical test oleh Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Diterbitkan 2014-01-01
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  10. 10
    USH2A Gene Editing Using the CRISPR System

    USH2A Gene Editing Using the CRISPR System oleh Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller

    Diterbitkan 2017-09-01
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  11. 11
    A genetic basis for mechanosensory traits in humans.

    A genetic basis for mechanosensory traits in humans. oleh Henning Frenzel, Jörg Bohlender, Katrin Pinsker, Bärbel Wohlleben, Jens Tank, Stefan G Lechner, Daniela Schiska, Teresa Jaijo, Franz Rüschendorf, Kathrin Saar, Jens Jordan, José M Millán, Manfred Gross, Gary R Lewin

    Diterbitkan 2012-01-01
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  12. 12
    Analysis of the Ush2a gene in medaka fish (Oryzias latipes).

    Analysis of the Ush2a gene in medaka fish (Oryzias latipes). oleh Elena Aller, Ana V Sánchez-Sánchez, Javier U Chicote, Gema García-García, Patricia Udaondo, Laura Cavallé, Marina Piquer-Gil, Antonio García-España, Manuel Díaz-Llopis, José M Millán, José L Mullor

    Diterbitkan 2013-01-01
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  13. 13
    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. oleh Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

    Diterbitkan 2016-01-01
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  14. 14
    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. oleh Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

    Diterbitkan 2018-01-01
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  15. 15
    New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

    New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. oleh Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola

    Diterbitkan 2018-01-01
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  16. 16
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation oleh Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

    Diterbitkan 2016-01-01
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  17. 17
    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i>

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> oleh Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

    Diterbitkan 2022-07-01
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  18. 18
    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa oleh Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

    Diterbitkan 2023-11-01
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