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dc.contributor.author | Lucariello, Mario |
---|---|
dc.contributor.author | Vidal, Enrique |
dc.contributor.author | Vidal, Silvia |
dc.contributor.author | Sáez, Mauricio A. |
dc.contributor.author | Roa, Laura |
dc.contributor.author | Huertas, Dori |
dc.contributor.author | Pineda Marfà, Mercè |
dc.contributor.author | Dalfó Capella, Esther |
dc.contributor.author | Dopazo, Joaquín |
dc.contributor.author | Jurado, Paola |
dc.contributor.author | Armstrong i Morón, Judith |
dc.contributor.author | Esteller, Manel |
dc.date | 2017-06-21T11:33:56Z |
dc.date | 2017-06-21T11:33:56Z |
dc.date | 2016-12 |
dc.date | 2017-06-21T11:33:56Z |
dc.identifier.citation | 0340-6717 |
dc.identifier.citation | 668662 |
dc.identifier.uri | http://hdl.handle.net/2445/112696 |
dc.format | 12 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Springer Verlag |
dc.relation | Reproducció del document publicat a: https://doi.org/10.1007/s00439-016-1721-3 |
dc.relation | Human Genetics, 2016, vol. 135, num. 12, p. 1343-1354 |
dc.relation | https://doi.org/10.1007/s00439-016-1721-3 |
dc.rights | cc-by (c) Lucariello, Mario et al., 2016 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | http://creativecommons.org/licenses/by/3.0/es |
dc.subject | Síndrome de Rett |
dc.subject | Mutació (Biologia) |
dc.subject | Fenotip |
dc.subject | Seqüència d'aminoàcids |
dc.subject | Malalties cerebrals |
dc.subject | Rett syndrome |
dc.subject | Mutation (Biology) |
dc.subject | Phenotype |
dc.subject | Amino acid sequence |
dc.subject | Brain diseases |
dc.title | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract |