Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Antonio Sanchez-Herranz"'
Autor:
Antonio Sanchez-Herranz, Fernando Arias-Fúnez, Sergio Avila-Padilla, Victoria Gómez-Dos-Santos, F.J. Burgos-Revilla, Ines Maria Laso-Garcia
Publikováno v:
Nephro-Urology Monthly. 12
Background: Urolithiasis is a disorder that has a high prevalence in the population. Also, lithiasic patients have biochemical alterations that predispose them to the formation of stones. The knowledge of these alterations may be useful for future pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31ab0da3498dfa2d66e429e03911db7d
https://doi.org/10.5812/numonthly.103639
https://doi.org/10.5812/numonthly.103639
Autor:
Antonio Sanchez-Herranz, Mercedes Garcia-Villanueva, Isabel Gobernado, Adriano Jimenez-Escrig
Publikováno v:
Muscle & Nerve. 45:605-610
Introduction The aim of this study is to describe a new mutation in the LMNA gene diagnosed by whole exome sequencing. Methods A two-generation kindred with recessive limb-girdle muscular dystrophy was evaluated by exome sequencing of the proband's D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50721119243c2096b2c9309d91bd16cc
https://doi.org/10.1002/mus.22324
https://doi.org/10.1002/mus.22324
The development of parallel sequencing started a race with the aim to sequence massive amounts of DNA several orders of magnitude higher than the classical Sanger sequencing, providing the opportunity to screen large proportions of nucleic acids in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71c8a9ba1650fa31e6fbfa5f46b80786
https://doi.org/10.1016/b978-0-444-62651-6.00003-9
https://doi.org/10.1016/b978-0-444-62651-6.00003-9
Autor:
Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. delCastillo
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 53-61 (2020)
Abstract Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually
Externí odkaz:
https://doaj.org/article/95ca803243314fdd818ceecd749c97f9
Publikováno v:
Revista de Neurología. 54:692
En estos momentos se encuentra en plena expansion la llamada secuenciacion paralela o de siguiente generacion -next generation sequencing (NGS)-, que establece un salto de varios ordenes de magnitud en la longitud de los fragmentos secuenciados y la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0980f8228ec27253286909e2e017d1d0
https://doi.org/10.33588/rn.5411.2012040
https://doi.org/10.33588/rn.5411.2012040