نتائج البحث - "Maria Nieves-Moreno"

1

دورية أكاديمية

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

المؤلفون: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin

المصدر: Genes, Vol 12, Iss 5, p 707 (2021)

مصطلحات موضوعية: PAX6, aniridia, congenital cataracts, nystagmus, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/5/707Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/58b32784df0848c8aea483351bda975dTest

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النص الكامل

2

دورية أكاديمية

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

المؤلفون: Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval

المصدر: Current Issues in Molecular Biology; Volume 45; Issue 1; Pages: 465-478

مصطلحات موضوعية: dominant optic atrophy, Kjer type, OPA1, mitochondrial neuropathies

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry, Molecular and Cellular Biology; https://dx.doi.org/10.3390/cimb45010030Test

الإتاحة: https://doi.org/10.3390/cimb45010030Test

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3

دورية أكاديمية

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

المصدر: Genes, Vol 14, Iss 10, p 1838 (2023)

مصطلحات موضوعية: non-syndromic pediatric keratoconus, whole-exome sequencing, ophthalmogenetics, Genetics, QH426-470

العلاقة: https://www.mdpi.com/2073-4425/14/10/1838Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/7df6c07b27f046a9a86f33212e81a43fTest

الإتاحة: https://doi.org/10.3390/genes14101838Test
https://doaj.org/article/7df6c07b27f046a9a86f33212e81a43fTest

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النص الكامل

4

دورية أكاديمية

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

المؤلفون: Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno, Rocío Mena, Carmen Rodríguez-Jiménez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesús M. Peralta, Ángela Del Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Celia Fernández-Alcalde, Carmen González-Atienza, Eloísa Sánchez-Cazorla, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespín

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11429 (2023)

مصطلحات موضوعية: non-syndromic pediatric cataracts, bilateral cataracts, lenses, whole exome sequencing, ophthalmogenetics, Biology (General), QH301-705.5, Chemistry, QD1-999

العلاقة: https://www.mdpi.com/1422-0067/24/14/11429Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17Test

الإتاحة: https://doi.org/10.3390/ijms241411429Test
https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17Test

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النص الكامل

5

دورية أكاديمية

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15676 (2023)

مصطلحات موضوعية: early-onset high myopia, whole-exome sequencing, ophthalmogenetics, polygenic inheritance, candidate genes, Biology (General), QH301-705.5, Chemistry, QD1-999

العلاقة: https://www.mdpi.com/1422-0067/24/21/15676Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219Test

الإتاحة: https://doi.org/10.3390/ijms242115676Test
https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219Test

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النص الكامل

6

دورية أكاديمية

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

المؤلفون: Eva González-Iglesias, Ana López-Vázquez, Susana Noval, María Nieves-Moreno, María Granados-Fernández, Natalia Arruti, Irene Rosa-Pérez, Marta Pacio-Míguez, Victoria E. F. Montaño, Patricia Rodríguez-Solana, Angela del Pozo, Fernando Santos-Simarro, Elena Vallespín

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4233

مصطلحات موضوعية: early-onset high myopia, next-generation sequencing, ophthalmogenetics

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23084233Test

الإتاحة: https://doi.org/10.3390/ijms23084233Test

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7

دورية أكاديمية

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

المؤلفون: Celia Fernández-Alcalde, María Nieves-Moreno, Susana Noval, Jesús M. Peralta, Victoria E. F. Montaño, Ángela del Pozo, Fernando Santos-Simarro, Elena Vallespín

المصدر: Genes; Volume 12; Issue 4; Pages: 580

مصطلحات موضوعية: congenital cataracts, genetics, next-generation sequencing, ophthalmogenetics

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040580Test

الإتاحة: https://doi.org/10.3390/genes12040580Test

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8

Neovascular Glaucoma in Children: A case series and a review of the literature

المؤلفون: Maria Nieves-Moreno, Jesús Peralta, Susana Noval

المصدر: European Journal of Ophthalmology. 32:3289-3294

مصطلحات موضوعية: Glaucoma, Neovascular, Ophthalmology, genetic structures, Child, Preschool, Retinal Vein Occlusion, Infant, Newborn, Visual Acuity, Humans, sense organs, General Medicine, Child, Eye, eye diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb611977676aee0eb11afee236eb527Test
https://doi.org/10.1177/11206721221078678Test

9

دورية أكاديمية

Reorganización y modernización de las Administraciones Públicas: sucesión laboral y despidos colectivos

المؤلفون: José Luis Monereo Pérez, María Nieves Moreno Vida, Belén del Mar López Insua

المصدر: Gestión y Análisis de Políticas Públicas, Iss 22 (2019)

مصطلحات موضوعية: Reversión, sector público, despido colectivo, límites y garantías laborales, Political institutions and public administration (General), JF20-2112

العلاقة: http://revistasonline.inap.es/index.php/GAPP/article/view/10630Test; https://doaj.org/toc/1134-6035Test; https://doaj.org/toc/1989-8991Test; https://doaj.org/article/2c45b78995864bae808e4d3cb2f25557Test

الإتاحة: https://doi.org/10.24965/gapp.i22.10630Test
https://doaj.org/article/2c45b78995864bae808e4d3cb2f25557Test

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النص الكامل

10

دورية أكاديمية

Impacts of age and sex on retinal layer thicknesses measured by spectral domain optical coherence tomography with Spectralis.

المؤلفون: María Nieves-Moreno, José M Martínez-de-la-Casa, Laura Morales-Fernández, Rubén Sánchez-Jean, Federico Sáenz-Francés, Julián García-Feijoó

المصدر: PLoS ONE, Vol 13, Iss 3, p e0194169 (2018)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC5844598?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/e22b7f07e1c14f71ab9bc9f5c2559dedTest

الإتاحة: https://doi.org/10.1371/journal.pone.0194169Test
https://doaj.org/article/e22b7f07e1c14f71ab9bc9f5c2559dedTest

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النص الكامل

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