Juan Jose
Telleria Orriols
Publicacións (62) Publicacións de Juan Jose Telleria Orriols
2024
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Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2022
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Genetic profiles to identify talents in elite endurance athletes and professional football players
PLoS ONE, Vol. 17, Núm. 9 September
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Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment
Ophthalmic Research, Vol. 65, Núm. 6, pp. 615-636
2020
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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
Molecular Vision, Vol. 26, pp. 216-225
2019
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CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA
Journal of Headache and Pain, Vol. 20, Núm. 1
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Liver-Metabolizing Genes and Their Relationship to the Performance of Elite Spanish Male Endurance Athletes; a Prospective Transversal Study
Sports Medicine - Open, Vol. 5, Núm. 1
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Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease
Neurobiology of Aging, Vol. 84, pp. 238.e19-238.e24
2018
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Alteraciones orodentales en el Síndrome de Bloch-Sulzberger. Revisión bibliográfica
Maxillaris: Actualidad profesional e industrial del sector dental, Año 21, Núm. 227, pp. 108-119
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Polymorphisms in receptors involved in opsonic and nonopsonic phagocytosis, and correlation with risk of infection in oncohematology patients
Infection and Immunity, Vol. 86, Núm. 12
2017
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Neuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T)
Acta Otorrinolaringologica Espanola, Vol. 68, Núm. 3, pp. 183-185
2016
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Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation
CASE REPORTS IN NEUROLOGICAL MEDICINE, Vol. 2016
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Relevancia de las nuevas pruebas genéticas en el diagnóstico de la talla baja con dismorfias
Medicina Clinica
2015
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Importance of genetic tests in childhood hearing loss
REVISTA DE LA SOCIEDAD OTORRINOLARINGOLOGICA DE CASTILLA Y LEON CANTABRIA Y LA RIOJA, Vol. 6, pp. 19-30
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Importancia de las pruebas genéticas en la hipoacusia infantil
Revista ORL, Vol. 6, pp. 19-30
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Nonvascular post–liver transplantation complications: From us screening to crosssectional and interventional imaging
Radiographics, Vol. 35, Núm. 1, pp. 87-104
2014
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Nontraumatic acute aortic emergencies: Part 1, acute aortic syndrome
American Journal of Roentgenology, Vol. 202, Núm. 3, pp. 656-665
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Nontraumatic acute aortic emergencies: Part 2, pre-and postsurgical complications related to aortic aneurysm in the emergency clinical setting
American Journal of Roentgenology, Vol. 202, Núm. 3, pp. 666-674
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TLR2-TLR4/CD14 polymorphisms and predisposition to severe invasive infections by Neisseria meningitidis and Streptococcus pneumoniae
Medicina Intensiva, Vol. 38, Núm. 6, pp. 356-362
2011
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El polimorfismo R753Q del toll-like receptor 2 se asocia a un aumento en el riesgo de sufrir endocarditis infecciosa
Revista Espanola de Cardiologia, Vol. 64, Núm. 11, pp. 1056-1059
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Ética en investigación genética (2). Estudios de susceptibilidad
Medicina Clinica, Vol. 137, Núm. 1, pp. 22-26