المؤلفون: Martinez, Nerina, Rosales, Julieta, Medina, Nancy, Perez-Maturo, Josefina, Salinas, Valeria, Zavala, Lucia, Vega, Patricia, Rodríguez-Quiroga, Sergio, Morón, Dolores González-, Kauffman, Marcelo A.

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Mitochondrial diseases, Molecular diagnostic, Algorithm

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100302

المؤلفون: Vázquez-Medina, Martín Uriel, Montejo-Velázquez, Cesar, Vargas-De-León, Cruz, Barrón-Campos, Arcelia Carolina, Almeyda-Farfán, José Antonio, Gándara-Calderón, Julián Gonzalo, Pantaleón-Martínez, Claudia, Fernández-Martínez, Nerina del Carmen, María del Rosario, Herrera-Maceda, Cerda-Reyes, Eira

المصدر: Annals of Hepatology ; volume 24, page 100370 ; ISSN 1665-2681

الاتاحة: http://dx.doi.org/10.1016/j.aohep.2021.100370
https://api.elsevier.com/content/article/PII:S1665268121000697?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1665268121000697?httpAccept=text/plain

المؤلفون: Salinas, Valeria, Martínez, Nerina, Maturo, Josefina Pérez, Rodriguez-Quiroga, Sergio A., Zavala, Lucia, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, Morón, Dolores González, Kauffman, Marcelo A., Vega, Patricia

المصدر: European Journal of Medical Genetics ; volume 64, issue 12, page 104363 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2021.104363
https://api.elsevier.com/content/article/PII:S1769721221002299?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721221002299?httpAccept=text/plain

المؤلفون: Salinas, Valeria, Vega, Patricia, Marsili, Luca, Pérez‐Maturo, Josefina, Martínez, Nerina, Zavala, Lucia, González‐Morón, Dolores, Medina, Nancy, Rodriguez‐Quiroga, Sergio A., Amartino, Hernán, Maxit, Clarisa, Sturchio, Andrea, Grimberg, Barbara, Duque, Kevin, Comas, Betiana, Silva, Walter, Consalvo, Damián, Sfaello, Ignacio, Espay, Alberto J., Kauffman, Marcelo A.

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 184, issue 4, page 876-884 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.31848
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31848
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.31848

المؤلفون: Barraza-Ortiz, Diego A., Pérez-López, Nuria, Medina-López, Víctor M., Minero-Alfaro, José I., Zamarripa-Dorsey, Felipe, Fernández-Martínez, Nerina del C., Llorente-Ramón, Alberto, Ramos-Aguilar, Gustavo A.

المصدر: Digestive Diseases ; volume 39, issue 3, page 294-300 ; ISSN 0257-2753 1421-9875

الاتاحة: http://dx.doi.org/10.1159/000510950
https://www.karger.com/Article/Pdf/510950

المؤلفون: Rosales, Julieta, Medina, Nancy, Martinez, Nerina, Quirofa, Sergio Rodriguez, Cordoba, Marta, Dustafante, Cecilia Vazquez, Vega, Patricia, Taratuto, Ana Lía, Kauffman, Marcelo, Morón, Dolores Gonzalez

المصدر: Neurology ; volume 88, issue 16_supplement ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.88.16_supplement.p2.188

المؤلفون: Rosales, Julieta, Medina, Nancy, Martínez, Nerina, Rodríguez-Quiroga, Sergio, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Vega, Patricia, Taratuto, Ana Lía, Kauffman, Marcelo Andrés, González-Morón, Dolores

المصدر: Neurología Argentina ; volume 9, issue 4, page 231-242 ; ISSN 1853-0028

الاتاحة: http://dx.doi.org/10.1016/j.neuarg.2017.07.001
https://api.elsevier.com/content/article/PII:S1853002817300538?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1853002817300538?httpAccept=text/plain

المؤلفون: Salinas Calderon, Valeria Macarena, Martinez, Nerina, Perez Maturo, Josefina, Rodríguez Quiroga, Sergio Alejandro, Zavala, Lucía, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, González Morón, Dolores, Kauffman, Marcelo Andres, Vega, Patricia

مصطلحات موضوعية: PEDIATRIC EPILEPSY, RE-INTERPRETATION, RECESSIVE EPILEPSY, TARGETED GENE PANEL SEQUENCING, VARIANTS OF UNCERTAIN SIGNIFICANCE, WHOLE EXOME SEQUENCING, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1769721221002299; http://hdl.handle.net/11336/184589; Salinas Calderon, Valeria Macarena; Martinez, Nerina; Perez Maturo, Josefina; Rodríguez Quiroga, Sergio Alejandro; Zavala, Lucía; et al.; Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation; Elsevier Science; European Journal Of Medical Genetics; 64; 12; 12-2021; 1-8; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/184589

المؤلفون: Salinas, Valeria Macarena, Vega, Patricia, Marsili, Luca, Perez Maturo, Josefina, Martínez, Nerina, Zavala, Lucía, González Morón, Dolores, Medina, Nancy, Rodríguez Quiroga, Sergio Alejandro, Amartino, Hernán, Maxit, Clarisa, Sturchio, Andrea, Grimberg, Barbara, Duque, Kevin, Comas, Betiana, Silva, Walter, Consalvo, Damián, Sfaello, Ignacio, Espay, Alberto J., Kauffman, Marcelo Andres

مصطلحات موضوعية: DIAGNOSTIC ODYSSEY, MOSAICISM, TARGETED GENE PANEL SEQUENCING, VARIANTS OF UNKNOWN SIGNIFICANCE, WHOLE EXOME SEQUENCING, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11336/163875; Salinas, Valeria Macarena; Vega, Patricia; Marsili, Luca; Perez Maturo, Josefina; Martínez, Nerina; et al.; The odyssey of complex neurogenetic disorders: From undetermined to positive; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 184; 4; 12-2020; 876-884; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/163875