Showing 1 - 7 results of 7 for search 'Jose M Millan', query time: 0.04s Refine Results
  1. 1
    Genetic Testing for Rare Diseases

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

    Published 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 by 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

    Published 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? by Brian D. Perkins, Glenn P. Lobo, Altaf A. Kondkar, Jose M. Millan

    Published 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 by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Published 2011-01-01
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  5. 5
    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. by 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

    Published 2018-01-01
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  6. 6
    Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome

    Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome by Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

    Published 2024-12-01
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  7. 7
    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by 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

    Published 2023-11-01
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