المؤلفون: Sintas Vives, Cèlia, Carreño, Oriel, Fernàndez Castillo, Noèlia, Corominas Castiñeira, Roser, Vila Pueyo, Marta, Toma, Claudio, Cuenca León, Ester, Barroeta, Isabel, Roig i Arnall, Carles, Volpini Bertrán, Víctor, Macaya Ruiz, Alfons, Cormand Rifà, Bru

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Genètica mèdica, Mecànica humana, Medical genetics, Human mechanics

وصف الملف: 9 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s41598-017-02554-xTest; Scientific Reports, 2017, vol. 7, num. 2514; https://doi.org/10.1038/s41598-017-02554-xTest; info:eu-repo/grantAgreement/EC/FP7/254930/EU//GEVAD; http://hdl.handle.net/2445/119655Test; 666490

الإتاحة: https://doi.org/10.1038/s41598-017-02554-xTest
http://hdl.handle.net/2445/119655Test

المؤلفون: Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H.H., Lehtimäki, Terho, Sarin, Antti Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke Jan, Penninx, Brenda W.J.H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A.F., Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hamalainen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, van Duijn, Cornelia, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Ikram, M. Arfan, Spector, Tim, Järvelin, Marjo Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P., Ferrari, Michel, Belin, Andrea Carmine, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M.J.M., Zwart, John Anker, Boomsma, Dorret I., Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, Børte, Sigrid, Cormand, Bru, Eising, Else, Frants, Rune R., Griffiths, Lyn, Hiekkala, Marjo, Kajanne, Risto, Launer, Lenore, Lehtimaki, Terho, Lessel, Davor, Litterman, Nadia, Macaya, Alfons, Mangino, Massimo, Northover, Carrie, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Sintas, Celia, Strachan, David, Vila-Pueyo, Marta, Wrenthal, William, Zhao, Huiying, other, and

المصدر: Nature Genetics

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/221872/1/91785.pdfTest; Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H.H., Lehtimäki, Terho, Sarin, Antti Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke Jan, Penninx, Brenda W.J.H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A.F., Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hamalainen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, van Duijn, Cornelia, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Ikram, M. Arfan, Spector, Tim, Järvelin, Marjo Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P., Ferrari, Michel, Belin, Andrea Carmine, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M.J.M., Zwart, John Anker, Boomsma, Dorret I., Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, Børte, Sigrid, Cormand, Bru, Eising, Else, Frants, Rune R., Griffiths, Lyn, Hiekkala, Marjo, Kajanne, Risto, Launer, Lenore, Lehtimaki, Terho, Lessel, Davor, Litterman, Nadia, Macaya, Alfons, Mangino, Massimo, Northover, Carrie, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Sintas, Celia, Strachan, David, Vila-Pueyo, Marta, Wrenthal, William, Zhao, Huiying, & other, and (2016) Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nature Genetics, 48(8), pp. 856-866.; https://eprints.qut.edu.au/221872Test/; Institute of Health and Biomedical Innovation

الإتاحة: https://doi.org/10.1038/ng.3598Test
https://eprints.qut.edu.au/221872Test/

المؤلفون: Freilinger, Tobias, Anttila, Verneri, De Vries, Boukje, Malik, Rainer, Kallela, Mikko, Terwindt, Gisela M., Pozo-Rosich, Patricia, Winsvold, Bendik, Nyholt, Dale R., Van Oosterhout, Willebrordus P. J., Artto, Ville, Todt, Unda, Hämäläinen, Eija, Fernández-Morales, Jèssica, Louter, Mark A., Kaunisto, Mari A., Schoenen, Jean, Raitakari, Olli, Lehtimäki, Terho, Vila-Pueyo, Marta, Göbel, Hartmut, Wichmann, Erich, Sintas, Cèlia, Uitterlinden, Andre G., Hofman, Albert, Rivadeneira, Fernando, Heinze, Axel, Tronvik, Erling, Van Duijn, Cornelia M., Kaprio, Jaakko, Cormand, Bru

مصطلحات موضوعية: 1311 Genetics

الإتاحة: https://doi.org/10.1038/ng.2307Test
https://espace.library.uq.edu.au/view/UQ:a09486eTest

المؤلفون: Sintas, Cèlia, Carreño, Oriel, Fernández Castillo, Noelia, Corominas, Roser, Vila Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Victor, Macaya, Alfons, Cormand, Bru

مصطلحات موضوعية: Atàxia, Gens

وصف الملف: application/pdf

العلاقة: Scientific Reports. 2017 May 31;7(1):2514; info:eu-repo/grantAgreement/EC/FP7/254930; info:eu-repo/grantAgreement/ES/3PN/SAF2009-13182-C01; info:eu-repo/grantAgreement/ES/3PN/SAF2009-13182-C03; Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C. et al. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sci Rep. 2017 May 31;7(1):2514. DOI:10.1038/s41598-017-02554-x; http://hdl.handle.net/10230/35306Test; http://dx.doi.org/10.1038/s41598-017-02554-xTest

الإتاحة: https://doi.org/10.1038/s41598-017-02554-xTest
http://hdl.handle.net/10230/35306Test

المؤلفون: Sintas, Cèlia, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Vila-Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Víctor, Macaya Ruiz, Alfons, Cormand, Bru

المساهمون: Universitat de Barcelona

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific Reports

مصطلحات موضوعية: Male, Atàxia, Mecànica humana, Science, DNA Mutational Analysis, Medical genetics, Human mechanics, Article, Pedigree, Genètica mèdica, Mutation, Humans, Medicine, Ataxia, Female, Calcium Channels, 3' Untranslated Regions, Gene Deletion, Genetic Association Studies, Sequence Deletion, Gens

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3d9ca2f7be43de2ecb5784576bfcae18Test
http://hdl.handle.net/2445/119655Test