المؤلفون: Cole, Duncan

المصدر: Onfilm, Jul 2007; v.24 n.7:p.22-23,27

المؤلفون: Lund, Allan M, Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil‐Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki‐Szymanska, Anna, Lopez‐Rodriguez, Monica, Guillén‐Navarro, Encarna, Dali, Christine I, Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, JM Hannerieke, Jones, Simon A, Amraoui, Yasmina, Harmatz, Paul, Guffon, Nathalie

المصدر: Journal of Inherited Metabolic Disease. 41(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Activities of Daily Living, Adolescent, Adult, Child, Enzyme Replacement Therapy, Europe, Female, Follow-Up Studies, Humans, Male, Quality of Life, Recombinant Proteins, Severity of Illness Index, Treatment Outcome, Young Adult, alpha-Mannosidase, alpha-Mannosidosis, Alpha-mannosidosis, Recombinant human alpha-mannosidase, Lysosomal storage disorder, Enzyme replacement therapy, Velmanase alfa, Integrated analysis, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5270m448
https://escholarship.org/content/qt5270m448/qt5270m448.pdf

المؤلفون: Stepien, Karolina M., Broomfield, Alexander, Cole, Duncan, Deegan, Patrick B., Forshaw-Hulme, Stuart, Hughes, Derralynn, Jovanovic, Ana, Morris, Liz, Muir, Alison, Ramaswami, Uma

المساهمون: Sanofi

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02796-1
https://link.springer.com/content/pdf/10.1186/s13023-023-02796-1.pdf
https://link.springer.com/article/10.1186/s13023-023-02796-1/fulltext.html

المؤلفون: Cole, Duncan

مصطلحات موضوعية: 612.8

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.583631

المؤلفون: Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P.N., Fuchs, Sabine A., Darin, Niklas, Hedberg-Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha

المساهمون: Metabole ziekten onderzoek 2, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, Genetics, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446411

الاتاحة: https://dspace.library.uu.nl/handle/1874/446411

المؤلفون: Roberts, Mark E., Cole, Duncan, Deegan, Patrick B., Geberhiwot, Tarekegn, Hughes, Derralynn, Lachmann, Robin, Sharma, Reena, Jain, Vipul, Moffat, Elizabeth, Rutecki, Jasmine, Clarke, Sophie

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108018 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.108018
https://api.elsevier.com/content/article/PII:S1096719223006480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223006480?httpAccept=text/plain

المؤلفون: Ramchand, Suraj, Cole, Duncan, Virdi, Avraj, Ploszajski, Matthew, Xie, Xianghua

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108014 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.108014
https://api.elsevier.com/content/article/PII:S1096719223006443?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223006443?httpAccept=text/plain

المؤلفون: Donald, Aimee, Tan, Chong Y., Chakrapani, Anupam, Hughes, Derralyn A., Sharma, Reena, Cole, Duncan, Bardins, Stanislav, Gorges, Martin, Jones, Simon A., Schneider, Erich

المصدر: http://lobid.org/resources/99370675069506441#!, 15(1):349.

مصطلحات موضوعية: Neuronopathic, Eye Movements [MeSH], Rare disease, Humans [MeSH], Neurodegenerative disease, Ocular-motor, Video-oculography, Lysosomal storage diseases, Gaucher Disease/diagnosis [MeSH], Gaucher Disease/genetics [MeSH], Eye tracker, Saccades, Glucosylceramidase/genetics [MeSH], Research, Phenotype [MeSH], Biomarkers [MeSH]

Relation: https://repository.publisso.de/resource/frl:6463033; https://doi.org/10.1186/s13023-020-01637-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7745364/

الاتاحة: https://repository.publisso.de/resource/frl:6463033
https://doi.org/10.1186/s13023-020-01637-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7745364/

المؤلفون: Dalmia, Sanjush, Sharma, Reena, Ramaswami, Uma, Hughes, Derralynn, Jahnke, Nikki, Cole, Duncan, Smith, Sherie, Remmington, Tracey

المصدر: Cochrane Database of Systematic Reviews ; volume 2023, issue 12 ; ISSN 1465-1858

الاتاحة: https://doi.org/10.1002/14651858.cd012993.pub2

المؤلفون: Rengasamy, Emma, Cole, Duncan

المصدر: Methods in Physiology ; Technologies in Biomedical and Life Sciences Education ; page 417-450 ; ISSN 2628-7471 2628-748X ; ISBN 9783030956325 9783030956332

الاتاحة: http://dx.doi.org/10.1007/978-3-030-95633-2_14
https://link.springer.com/content/pdf/10.1007/978-3-030-95633-2_14

المؤلفون: Ramchand, Suraj, Tsang, Gavin, Cole, Duncan, Xie, Xianghua

المصدر: 2022 IEEE-EMBS International Conference on Biomedical and Health Informatics (BHI)

الاتاحة: http://dx.doi.org/10.1109/bhi56158.2022.9926906
http://xplorestaging.ieee.org/ielx7/9926747/9926739/09926906.pdf?arnumber=9926906

المؤلفون: Lund, Allan M., Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil-Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki-Szymanska, Anna, Lopez-Rodriguez, Monica, Guillén-Navarro, Encarna, Dali, Christine I., Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, J. M.Hannerieke, Jones, Simon A., Amraoui, Yasmina, Harmatz, Paul, Guffon, Nathalie

المصدر: Lund , A M , Borgwardt , L , Cattaneo , F , Ardigò , D , Geraci , S , Gil-Campos , M , De Meirleir , L , Laroche , C , Dolhem , P , Cole , D , Tylki-Szymanska , A , Lopez-Rodriguez , M , Guillén-Navarro , E , Dali , C I , Héron , B , Fogh , J , Muschol , N , Phillips , D , Van den Hout , J M H , Jones , S A , Amraoui , Y , Harmatz , P & Guffon , N ....

مصطلحات موضوعية: Alpha-mannosidosis, Enzyme replacement therapy, Integrated analysis, Lysosomal storage disorder, Recombinant human alpha-mannosidase, Velmanase alfa

الاتاحة: https://researchprofiles.ku.dk/da/publications/comprehensive-longterm-efficacy-and-safety-of-recombinant-human-alphamannosidase-velmanase-alfa-treatment-in-patients-with-alphamannosidosis(d9d93ac3-6c62-4592-9216-4b8985475f0b).html
https://doi.org/10.1007/s10545-018-0175-2

المؤلفون: Cole, Duncan, Rengasamy, Emma, Batchelor, Shafqat, Pope, Charles, Riley, Stephen, Cunningham, Anne Marie

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/107291/1/Cole%20et%20al%20BMC%20MedEd%202017.pdf; Cole, Duncan https://orca.cardiff.ac.uk/view/cardiffauthors/A104990U.html, Rengasamy, Emma https://orca.cardiff.ac.uk/view/cardiffauthors/A1144869D.html, Batchelor, Shafqat, Pope, Charles, Riley, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A0160740.html and Cunningham, Anne Marie 2017. Using social media to support small group learning. BMC Medical Education 17 (1) , 201. 10.1186/s12909-017-1060-7 https://doi.org/10.1186/s12909-017-1060-7 file https://orca.cardiff.ac.uk/id/eprint/107291/1/Cole%20et%20al%20BMC%20MedEd%202017.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/107291/
https://doi.org/10.1186/s12909-017-1060-7
https://orca.cardiff.ac.uk/id/eprint/107291/1/Cole%20et%20al%20BMC%20MedEd%202017.pdf

المؤلفون: Metabole ziekten onderzoek 2, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P.N., Fuchs, Sabine A., Darin, Niklas, Hedberg-Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha

URL: https://doi.org/10.1002/jimd.12503
http://hdl.handle.net/1874/446411
https://dspace.library.uu.nl/handle/1874/446411
http://www.scopus.com/inward/record.url?scp=85129338109&partnerID=8YFLogxK
0141-8955
Journal of Inherited Metabolic Disease
45
4
819
831

المؤلفون: Daniel, Amanda, Cole, Duncan

المصدر: Molecular Genetics and Metabolism ; volume 132, issue 2, page S30 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2020.12.053
https://api.elsevier.com/content/article/PII:S1096719220303218?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719220303218?httpAccept=text/plain

المؤلفون: Bulleid, Lindsey, Daniel, Amanda, Cole, Duncan

المصدر: Molecular Genetics and Metabolism ; volume 132, issue 2, page S21 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2020.12.029
https://api.elsevier.com/content/article/PII:S1096719220302973?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719220302973?httpAccept=text/plain

المؤلفون: Lund, Allan, Guffon, Nathalie, Gil-Campos, Mercedes, Cattaneo, Frederica, Heron, Benedicte, Tylki-Szymanska, Anna, Borgwardt, Line, Regal, Luc, Cole, Duncan, Hennermann, Julia

المصدر: Molecular Genetics and Metabolism ; volume 132, issue 2, page S67 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2020.12.153
https://api.elsevier.com/content/article/PII:S1096719220304212?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719220304212?httpAccept=text/plain

المؤلفون: Cole, Duncan Sean, Maw, Katie J.

المصدر: Molecular Genetics and Metabolism ; volume 132, issue 2, page S27 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2020.12.046
https://api.elsevier.com/content/article/PII:S1096719220303140?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719220303140?httpAccept=text/plain

المؤلفون: Cole, Duncan, Cunningham, Anne Marie

المصدر: Education for Primary Care ; volume 25, issue 3, page 176-178 ; ISSN 1473-9879 1475-990X

الاتاحة: http://dx.doi.org/10.1080/14739879.2014.11494270
http://www.tandfonline.com/doi/pdf/10.1080/14739879.2014.11494270

المؤلفون: Findley, Helen, Philips, Anu, Cole, Duncan, Nair, Amanda

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://ceaccp.oxfordjournals.org/cgi/content/short/12/3/128; http://dx.doi.org/10.1093/bjaceaccp/mks009

الاتاحة: http://ceaccp.oxfordjournals.org/cgi/content/short/12/3/128
https://doi.org/10.1093/bjaceaccp/mks009