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Your search keyword '"Jesús Esteban-Pérez"' showing total 2 results
Start Over Author "Jesús Esteban-Pérez" Journal muscle & nerve
2 results on '"Jesús Esteban-Pérez"'

1. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation inMYH2

Author

Cristina Domínguez-González, Diana Cantero Montenegro, Jesús Esteban-Pérez, and Aurelio Hernández-Laín

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Physiology, External ophthalmoplegia, Magnetic resonance imaging, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cataracts, Physiology (medical), Mutation (genetic algorithm), Myosin, medicine, Neurology (clinical), medicine.symptom, Myopathy, 030217 neurology & neurosurgery
Published
2016
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2. A milder phenotype of megaconial congenital muscular dystrophy due to a novelCHKBmutation

Author

Cristina Domínguez-González, Ana Fernández-Marmiesse, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Juan Francisco Gonzalo-Martínez, Miguel A. Martín, Jesús Esteban-Pérez, Aurelio Hernández-Laín, and Joaquín Arenas

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, Physiology, business.industry, medicine.disease, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Skeletal pathology, Physiology (medical), Mutation (genetic algorithm), Congenital muscular dystrophy, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
Published
2016
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