Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Mp, Botella"'
Publikováno v:
ResearcherID
Europe PubMed Central
Europe PubMed Central
Opsoclonus myoclonus ataxia syndrome (OMAS) is a very infrequent paraneoplastic or postinfectious movement disorder, which may occur at any age, most commonly between 6 and 36 months of age. In four days, a previously healthy 30-month-old girl progre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::03d82402e2736f3b3a8ab1a1ec1eef9f
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000265943300010&KeyUID=WOS:000265943300010
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000265943300010&KeyUID=WOS:000265943300010
Autor:
Tejada MI; Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Elcoroaristizabal X; Genetracer Biotech, Santander, Spain., Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Botella MP; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain., de la Hoz AB; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Ocio I; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.
Publikováno v:
Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. Date of Electronic Publication: 2018 Nov 20.
Autor:
Villate O; Biocruces Health Research Institute, Barakaldo, Spain.; Molecular Genetics Laboratory, Genetics Service, Cruces University Hospital, Barakaldo, Spain., Ibarluzea N; Biocruces Health Research Institute, Barakaldo, Spain., Fraile-Bethencourt E; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Valenzuela A; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Velasco EA; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Botella MP; Department of Pediatrics, Araba University Hospital, Vitoria, Spain., Tejada MI; Biocruces Health Research Institute, Barakaldo, Spain.; Molecular Genetics Laboratory, Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Clinical Group, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Publikováno v:
Frontiers in genetics [Front Genet] 2018 Jan 26; Vol. 9, pp. 7. Date of Electronic Publication: 2018 Jan 26 (Print Publication: 2018).
Autor:
Codina-Solà M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Rodríguez-Santiago B; Quantitative Genomic Medicine Laboratories (qGenomics), C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain., Homs A; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Santoyo J; Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), C/Albert Einstein, Cartuja Scientific and Technology Park, INSUR Builiding, Sevilla, 41092 Spain., Rigau M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain., Aznar-Laín G; Pediatric Neurology, Hospital del Mar, Passeig Marítim 25-29, Barcelona, 08003 Spain., Del Campo M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain ; Servicio de Genética, Hospital Vall d'Hebron, Passeig Vall d'Hebron, 119-129, Barcelona, 08015 Spain., Gener B; Genetics Service, BioCruces Health Research Institute, Hospital Universitario Cruces, Plaza de Cruces 12, Barakaldo, Bizkaia 48093 Spain., Gabau E; Pediatrics Service, Corporació Sanitària Parc Taulí, Parc Taulí 1, Sabadell, 08208 Spain., Botella MP; Pediatric Neurology, Hospital de Txagorritxu, C/José de Atxotegui s/n, Victoria-Gasteiz, 01009 Spain., Gutiérrez-Arumí A; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Antiñolo G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain ; Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), C/Albert Einstein, Cartuja Scientific and Technology Park, INSUR Builiding, Sevilla, 41092 Spain ; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avda Manuel Siurot s/n, Sevilla, 41013 Spain., Pérez-Jurado LA; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain., Cuscó I; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain.
Publikováno v:
Molecular autism [Mol Autism] 2015 Apr 15; Vol. 6, pp. 21. Date of Electronic Publication: 2015 Apr 15 (Print Publication: 2015).
Autor:
Bauer M; Pediatric Pneumology and Immunology, Charité University Medicine, Berlin, Germany, Michael.Bauer@charite.de., Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2015 Feb; Vol. 35 (2), pp. 168-81. Date of Electronic Publication: 2015 Feb 27.
Autor:
Rice GI; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2013 Dec; Vol. 12 (12), pp. 1159-69. Date of Electronic Publication: 2013 Oct 30.
Autor:
Maortua H; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, Barakaldo-Bizkaia, Spain., Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 Sep; Vol. 15 (5), pp. 723-9. Date of Electronic Publication: 2013 Jun 26.
Autor:
Rice GI; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom., Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ
Publikováno v:
Human mutation [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. Date of Electronic Publication: 2013 May 13.
Autor:
Bijlsma EK; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. e.k.bijlsma@lumc.nl, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2012 Jun; Vol. 55 (6-7), pp. 404-13. Date of Electronic Publication: 2012 Mar 29.
Autor:
Cludy L; Unité de psycho-oncologie, Institut Gustave-Roussy, Villejuif. laurence.cludy@igr.fr, Botella MP
Publikováno v:
Revue de l'infirmiere [Rev Infirm] 2012 Feb (178), pp. 33-4.