المؤلفون: Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena‐Novales, Begoña Martínez‐Sanchis, Isabel Sastre‐Bataller, Marina Campins‐Romeu, Irene Martínez‐Torres, Jose Manuel García‐Verdugo, Jose M. Millán, Teresa Jaijo, Elena Aller, Luis Bataller

المصدر: Movement Disorders Clinical Practice.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee635d34fab223c4550402872256d3ca
https://doi.org/10.1002/mdc3.13740

المؤلفون: Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller

المصدر: Neurology. Genetics. 8(6)

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1195d4c0d80c5e8e15a487923001d21a
https://pubmed.ncbi.nlm.nih.gov/36530930

المؤلفون: Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: TULP1, inherited retinal dystrophy, atypical phenotype, whole-exome sequencing, minigene splice assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352063/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2

المؤلفون: 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

المصدر: JCI Insight, Vol 8, Iss 21 (2023)

مصطلحات موضوعية: Genetics, Ophthalmology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

المؤلفون: Brian D. Perkins, Glenn P. Lobo, Altaf A. Kondkar, Jose M. Millan

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: retinal dystrophy, inherited retinal degeneration (IRD), gene therapy, retinal regeneration, genetic testing, photoreceptor degeneration, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1301279/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/b3fd9fe8782f4b1bb9aea201f5bf318e

المؤلفون: Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b

المؤلفون: Miguel A. Melchor Díaz, Carlos Almodóvar Álvarez, Ignacio Jiménez Huerta, Álvaro Sánchez Barrueco, Jose M. Millán Juncos

المصدر: Acta Otorrinolaringológica Española. 63:318-320

مصطلحات موضوعية: Otorhinolaryngology, business.industry, Medicine, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::99a044a94a9ec00ba51719ccb7036e18
https://doi.org/10.1016/j.otorri.2011.01.011

المؤلفون: Diego, Bosca, Luis, Marco, Veronica, Burriel, Teresa, Jaijo, Jose M, Millán, Ana, Levin, Oscar, Pastor, Montserrat, Robles, Jose Alberto, Maldonado

المصدر: Studies in health technology and informatics. 192

مصطلحات موضوعية: Internationality, Vocabulary, Controlled, Terminology as Topic, Practice Guidelines as Topic, Electronic Health Records, Genetic Testing, Medical Record Linkage, Reference Standards, Health Level Seven, Semantics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dd8f05331e5c11ea54115ec16fdacfce
https://pubmed.ncbi.nlm.nih.gov/23920572

Alternate Title: Absceso lingual recurrente (Spanish; Castilian)

المؤلفون: Sánchez Barrueco, Álvaro, Melchor Díaz, Miguel A., Huerta, Ignacio Jiménez, Juncos, Jose M. Millán, Álvarez, Carlos Almodóvar

المصدر: In Acta Otorrinolaringologica (English Edition) July-August 2012 63(4):318-320

المؤلفون: Jaime E, Colón-Casasnovas, Natalio J, Izquierdo, Jose M, Millán

المصدر: Boletin de la Asociacion Medica de Puerto Rico. 102(4)

مصطلحات موضوعية: Adult, Male, Fovea Centralis, DNA Mutational Analysis, Puerto Rico, Middle Aged, Macular Edema, Genetic Heterogeneity, Phenotype, Mutation, Electroretinography, Audiometry, Pure-Tone, Humans, Macula Lutea, Visual Fields, Usher Syndromes, Tomography, Optical Coherence, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1813946486c6bac35a486d34354afc
https://pubmed.ncbi.nlm.nih.gov/21766549