المؤلفون: Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina

المصدر: Clinical Genetics. 103:236-241

مصطلحات موضوعية: Cerebellar Ataxia, Vestibular Diseases, Bilateral Vestibulopathy, Genetics, Humans, Peripheral Nervous System Diseases, Ataxia, Syndrome, Vestibular Neuronitis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4e13b922bf2a0416589dcc09c8c7e6
https://doi.org/10.1111/cge.14249

المؤلفون: Victoria San Antonio-Arce MD, María Fenollar-Cortés PhD, Raluca Oancea Ionescu PhD, Teresa DeSantos-Moreno PhD, Jesús Gallego-Merlo, Francisco José Illana Cámara, María Carmen Cotarelo Pérez MD

المصدر: Child Neurology Open, Vol 3 (2016)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/2329048X16630673; https://doaj.org/toc/2329-048X; https://doaj.org/article/4d858717c5b149de89bab1d32b0099ad

الاتاحة: https://doi.org/10.1177/2329048X16630673
https://doaj.org/article/4d858717c5b149de89bab1d32b0099ad

المؤلفون: Ana Bustamante-Aragones, Sara Perlado-Marina, Maria Trujillo-Tiebas, Jesús Gallego-Merlo, Isabel Lorda-Sanchez, Luz Rodríguez-Ramirez, Concepcion Linares, Corazón Hernandez, Marta De Alba

المصدر: Journal of Clinical Medicine; Volume 3; Issue 3; Pages: 913-922

مصطلحات موضوعية: ccffDNA, maternal plasma, NIPD, preimplantation genetic diagnosis

وصف الملف: application/pdf

Relation: Obstetrics & Gynecology; https://dx.doi.org/10.3390/jcm3030913

الاتاحة: https://doi.org/10.3390/jcm3030913

المؤلفون: Ana Bustamante-aragones, Sara Perlado-marina, Maria José Trujillo-tiebas, Jesús Gallego-merlo, Isabel Lorda-sanchez, Luz Rodríguez-ramirez, Concepcion Linares, Corazón Hern, Marta Rodriguez De Alba

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.mdpi.com/2077-0383/3/3/913/pdf?view=inline.

مصطلحات موضوعية: ccffDNA, maternal plasma, NIPD, preimplantation genetic diagnosis

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.648.612; http://www.mdpi.com/2077-0383/3/3/913/pdf?view=inline

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.648.612
http://www.mdpi.com/2077-0383/3/3/913/pdf?view=inline

المؤلفون: Francisco José Illana Cámara, María Fenollar-Cortés, Jesús Gallego-Merlo, Teresa DeSantos-Moreno, Victoria San Antonio-Arce, Raluca Oancea Ionescu, María Carmen Cotarelo Pérez

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, MECP2 duplication syndrome, phenotype, Xq28 microduplication including MECP2, General Medicine, 030105 genetics & heredity, MeCP2 Protein, Biology, medicine.disease, Phenotype, nervous system diseases, MECP2, Xq28, 03 medical and health sciences, chemistry.chemical_compound, female, 030104 developmental biology, chemistry, medicine, MECP2 gene, Penetrant (biochemical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7fd0dc3de7a4f5ef8cdce99fc306cac
https://doi.org/10.1177/2329048x16630673