المؤلفون: Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy Es, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik-Jan, Tijssen, Marina A, Verschuuren, Corien, van Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E

المصدر: Genomics England Research Consortium , Steel , D , Zech , M , Zhao , C , Barwick , K E , Burke , D , Demailly , D , Kumar , K R , Zorzi , G , Nardocci , N , Kaiyrzhanov , R , Wagner , M , Iuso , A , Berutti , R , Škorvánek , M , Necpál , J , Davis , R , Wiethoff , S , Mankad , K , Sudhakar , S , Ferrini , A , Sharma , S , Kamsteeg , E-J , Tijssen , M A ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://doi.org/10.1002/ana.25879
https://pure.rug.nl/ws/files/154955933/Loss_of_Function_Variants_in_HOPS_Complex_Genes_VPS16_and_VPS41_Cause_Early_Onset_Dystonia_Associated_with_Lysosomal_Abnormalities.pdf

المؤلفون: Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy E. S., Burke, Derek, Demailly, Diane, Kumar, Kishore R., Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik‐Jan, Tijssen, Marina A., Verschuuren, Corien, Egmond, Martje E., Flowers, Joanna M., McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I., Gonzalez‐Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M., Peall, Kathryn J., Bötzel, Kai, Koch, Jan C., Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J., Sue, Carolyn M., Cif, Laura, Mencacci, Niccolò E., Anderson, Glenn, Kurian, Manju A., Winkelmann, Juliane

مصطلحات موضوعية: ddc

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______518::765174a5d791ac8e7cfc2b893a13e2f1
https://mediatum.ub.tum.de/doc/1586226/document.pdf

المؤلفون: Flowers, Joanna M., Hicklin, Lucy, Marion, Marie‐Helene

المصدر: Movement Disorders ; volume 27, issue 7, page 929-929 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.25027
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.25027
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25027/fullpdf

المؤلفون: Flowers, Joanna M., Hicklin, Lucy A., Marion, Marie‐Helene

المصدر: Movement Disorders ; volume 26, issue 13, page 2409-2414 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.23905
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23905
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23905/fullpdf

المؤلفون: Flowers, Joanna M., Powell, John F., Leigh, P. Nigel, Andersen, Peter, Shaw, Christopher E.

المصدر: Annals of Neurology ; volume 49, issue 5, page 643-649 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.1029
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.1029
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.1029

المؤلفون: Flowers, Joanna M, Leigh, P.Nigel, Davies, Alun M, Ninkina, Natalia N, Buchman, Vladimir L, Vaughan, Jenny, Wood, Nick W, Powell, John F

المصدر: Neuroscience Letters ; volume 274, issue 1, page 21-24 ; ISSN 0304-3940

الاتاحة: http://dx.doi.org/10.1016/s0304-3940(99)00673-4
https://api.elsevier.com/content/article/PII:S0304394099006734?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0304394099006734?httpAccept=text/plain

المؤلفون: Hall, Judith M., Flowers, Joanna M., Morton, Ian K.M.

المصدر: British Journal of Pharmacology ; volume 107, issue 3, page 777-784 ; ISSN 0007-1188 1476-5381

الاتاحة: http://dx.doi.org/10.1111/j.1476-5381.1992.tb14523.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1476-5381.1992.tb14523.x
https://bpspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1476-5381.1992.tb14523.x

المؤلفون: Flowers, Joanna Mary

مصطلحات موضوعية: 616.839

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027