المؤلفون: Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)

مصطلحات موضوعية: Batten disease, Enzyme replacement therapy, Epilepsy, Language delay, Ataxia, Cerliponase alfa, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000132Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bfTest

المؤلفون: José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra, José Tomás Mesa, Sebastián Silva, Javiera Tello, Alvaro Retamales, Andrés Barrios, Fernando Pinto, Víctor Faundes, Mónica Troncoso

المصدر: Molecular Syndromology. :1-12

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d5ec15fe27cdcd07381b71cea1002db7Test
https://doi.org/10.1159/000529807Test

المؤلفون: Norberto Guelbert, Oscar M Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora G Atanacio, Natacha S Bazan, Ellaine D.F Carvalho, María D. F Carvalho de Andrade, Inés M Denzler, Consuelo Durand, Erlane M Ribeiro, Juan C Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma J Hernández Rodriguez, Emilia K Embiruçu, Marcelo A Kauffman, Nury I Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina F Fischinger Moura de Souza, Victor A Muñoz, Ricardo A Naranjo Florez, André L Pessoa, Maria V Ruiz, Martha M Solano Villareal, Norma Spécola, Lina M Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Urgrina, María M Vaccarezza, Diane Vergara, María M Villanueva

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::51af08e74ac01947826084e752e49bf4Test
https://doi.org/10.21203/rs.3.rs-2159184/v1Test

المؤلفون: Paulina Alid, Ana Miranda, Luisa Herrera, Javiera Tello, Isadora Ruiz, Mónica Troncoso

المصدر: Neurology. 93:361-361

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, genetic structures, business.industry, Multiple sclerosis, Alternating hemiplegia of childhood, Infant, Hemiplegia, Spasmus nutans, medicine.disease, Nystagmus, Pathologic, eye diseases, Monocular nystagmus, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Humans, Medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f644c1f2dc8a93d8a5cff8116101eaTest
https://doi.org/10.1212/wnl.0000000000007977Test

المؤلفون: Paula Silva, Sofía González, Claudia Lüders, Rosemarie Fristch, Perla David, Cristina Rigo-Righi, Javiera Tello, Felipe Solar, Sandy Butelmann

المصدر: Revista chilena de neuro-psiquiatría. 50:23-34

مصطلحات موضوعية: Embryology, Cell Biology, Anatomy, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4e3df48a148b7113ba9edd90f033d1f1Test
https://doi.org/10.4067/s0717-92272012000100003Test