Zobrazeno 1 - 3
of 3
pro vyhledávání: '"M. Asunción García Pérez"'
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Autor:
M Asunción García-Pérez, Luis Izquierdo-López, Daniel Natera-de Benito, Miguel Ángel Martínez-Granero
Publikováno v:
American journal of medical genetics. Part A. (2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3b7e7752e8020571283752e1992367
https://pubmed.ncbi.nlm.nih.gov/24311452
https://pubmed.ncbi.nlm.nih.gov/24311452
Sequential motor programming deterioration in rett syndrome: Clinical follow-up study of 13 patients
Autor:
Juan Narbona, M. Asunción García Pérez
Publikováno v:
Pediatric Neurology. 8:368-369
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aaeca1e8138aaa8fba07a9965f85c568
https://doi.org/10.1016/0887-8994(92)90180-7
https://doi.org/10.1016/0887-8994(92)90180-7