المؤلفون: Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, Cristóbal Colón

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: NCL2 disease, dried blood spot, early diagnosis, enzymatic activity, screening tripeptidyl peptidase 1, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.876688/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/d3c8bcd8eec841d0b9ab74134019f7df

المؤلفون: Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)

مصطلحات موضوعية: movement disorders, ataxia, cerebellar atrophy, neurodegeneration with brain iron accumulation (NBIA), gene panel, exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/19/11847; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef

المؤلفون: Anna Duat Rodríguez, Verónica Cantarín Extremera, Marta García Fernández, Juan José García Peñas, María Luz Ruiz-Falcó Rojas

المصدر: Anales de Pediatría, Vol 91, Iss 5, Pp 346-348 (2019)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1695403319300669; https://doaj.org/toc/1695-4033

URL الوصول: https://doaj.org/article/8f2adafe3bde466a977be9361643dd6e

المؤلفون: Anna Duat Rodríguez, Verónica Cantarín Extremera, Marta García Fernández, Juan José García Peñas, María Luz Ruiz-Falcó Rojas

المصدر: Anales de Pediatría (English Edition), Vol 91, Iss 5, Pp 346-348 (2019)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2341287919301607; https://doaj.org/toc/2341-2879

URL الوصول: https://doaj.org/article/59ff589d78064bcaa02840ca86da8d50

المؤلفون: Carmen Niño Taravilla, Isabel Pérez-Sebastián, Alberto García Salido, Claudia Varela Serrano, Verónica Cantarín Extremera, Anna Duat Rodríguez, Laura López Marín, Mercedes Alonso Sanz, Olga María Suárez Traba, Ana Serrano González

المصدر: Emerging Infectious Diseases, Vol 25, Iss 1, Pp 25-32 (2019)

مصطلحات موضوعية: Enterovirus epidemic, epidemiology, encephalitis, encephalomyelitis, viruses, Madrid, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://wwwnc.cdc.gov/eid/article/25/1/18-1089_article; https://doaj.org/toc/1080-6040; https://doaj.org/toc/1080-6059

URL الوصول: https://doaj.org/article/3f55bb05dc3843cf9e06548f1dce76dd

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المؤلفون: Belen Garcia, Nuria Catasus, Andrea Ros, Inma Rosas, Alejandro Negro, Mercedes Guerrero-Murillo, Ana Maria Valero, Anna Duat-Rodriguez, Juan Luis Becerra, Sandra Bonache, Conxi Lázaro Garcia, Carmina Comas, Isabel Bielsa, Eduard Serra, Concepción Hernández-Chico, Yolanda Martin, Elisabeth Castellanos, Ignacio Blanco

المصدر: Journal of Medical Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Neurofibromin 1, Genes, Neurofibromatosis 1, Genetics, Humans, Genetic Counseling, Genetic Testing, neoplasms, eye diseases, Genetics (clinical), nervous system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5930e8a98b7ff8147053e35cba8a2975
https://doi.org/10.1136/jmedgenet-2021-108301

المؤلفون: López-Marín, Laura^Aff02041, Gutiérrez-Solana, Luis G.^Aff02041, Azuara, Luis Aldamiz-Echevarria^Aff02042, de las Heras, Rogelio Simón^Aff02043, Rodríguez, Anna Duat^Aff02041, Extremera, Verónica Cantarín^Aff02041

المساهمون: Zschocke, Johannes, editor^Aff2044, Gibson, K Michael, editor^Aff2045, Brown, Garry, editor^Aff2046, Morava, Eva, editor^Aff2047, Peters, Verena, editor^Aff2048

المصدر: JIMD Reports - Volume 10. 10:61-68

المؤلفون: Beatriz Bernardino-Cuesta, María Jiménez-Legido, Serafín Rodríguez-Palero, I. Leoz-Gordillo, Verónica Cantarín-Extremera, David Mansilla-Lozano, Anna Duat-Rodríguez, Víctor Soto-Insuga, María Luz Ruiz-Falcó-Rojas, Manuel Luján-Bonete, Silvia Buendía-Martínez

المصدر: Journal of Pediatric Neurology. 20:330-335

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, Critical Illness Myopathy, biology, medicine.diagnostic_test, business.industry, Muscle weakness, Electromyography, medicine.disease, Comorbidity, Systemic inflammatory response syndrome, 03 medical and health sciences, 0302 clinical medicine, Intensive care, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Creatine kinase, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1661fc6304accbb0f47ee7f2abf69eff
https://doi.org/10.1055/s-0041-1728700

المؤلفون: Daniel Azorín, Angela Hernández-Martín, Francisco Javier García-Martínez, Anna Duat-Rodríguez

المصدر: JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 19:73-81

مصطلحات موضوعية: Gynecology, 030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, Dermatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7e1b25e895912d227752f3086c113d5a
https://doi.org/10.1111/ddg.14322_g