Showing 1 - 11 results of 11 for search 'José M Millan', query time: 0.04s
Refine Results
-
1
Genetic Testing for Rare Diseases by José M. Millán, Gema García-García
Published 2022-03-01
Article -
2
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
Article -
3
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
Article -
4
-
5
Usher Syndrome: Genetics of a Human Ciliopathy by Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García
Published 2021-06-01
Article -
6
-
7
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice by Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Published 2020-12-01
Article -
8
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation by 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
Published 2016-01-01
Article -
9
miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks by Jorge Raga-Cervera, Jose M. Bolarin, Jose M. Millan, Jose J. Garcia-Medina, Laia Pedrola, Javier Abellán-Abenza, Mar Valero-Vello, Silvia M. Sanz-González, José E. O’Connor, David Galarreta-Mira, Elena Bendala-Tufanisco, Aloma Mayordomo-Febrer, Maria D. Pinazo-Durán, Vicente Zanón-Moreno
Published 2021-05-01
Article -
10
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> by 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
Published 2022-07-01
Article -
11
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
Article