المؤلفون: Thalhammer, G, Haider, T, Lauffer, M, Tünnerhoff, HG

المصدر: 14th Triennial Congress of the International Federation of Societies for Surgery of the Hand (IFSSH), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT); 20190617-20190621; Berlin; DOCIFSSH19-1475 /20200206/

مصطلحات موضوعية: TFCC, refixation, long-term Outcome, ddc: 610

العلاقة: http://dx.doi.org/10.3205/19ifssh0886Test; http://nbn-resolving.de/urn:nbn:de:0183-19ifssh08867Test; http://www.egms.de/en/meetings/ifssh2019/19ifssh0886.shtmlTest

الإتاحة: https://doi.org/10.3205/19ifssh0886Test
http://nbn-resolving.de/urn:nbn:de:0183-19ifssh08867Test
http://www.egms.de/en/meetings/ifssh2019/19ifssh0886.shtmlTest

المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdfTest; Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; et al. Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; Giess, A; Tucci, A; Beetz, C; Sedghi, M; Ansari, B; Barresi, R; Basiri, K; Cortese, A; Elgar, G; Fernandez-Garcia, MA; Yip, J; Foley, AR; Gutowski, N; Jungbluth, H; Lassche, S; Lavin, T; Marcelis, C; Marks, P; Marini-Bettolo, C; Medne, L; Moslemi, A-R; Sarkozy, A; Reilly, MM; Muntoni, F; Millan, F; Muraresku, CC; Need, AC; Nemeth, AH; Neuhaus, SB; Norwood, F; O'Donnell, M; O'Driscoll, M; Rankin, J; Yum, SW; Zolkipli-Cunningham, Z; Brusius, I; Wunderlich, G; Genomics England Research Consortium; Karakaya, M; Wirth, B; Fakhro, KA; Tajsharghi, H; Bönnemann, CG; Taylor, JC; Houlden, H (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain, 144 (2). pp. 584-600. ISSN 1460-2156 https://doi.org/10.1093/brain/awaa420Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awaa420Test
https://openaccess.sgul.ac.uk/id/eprint/112991Test/
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdfTest

المؤلفون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y. Q., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, Ali-Reza, Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.

المصدر: Brain : a journal of neurology. 144:584-600

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, hereditary motor and sensory neuropathies, nerve conduction studies, EMG, genetics: neuropathy, whole-genome sequencing, matrix protein warp, zebrafish, mutations, model, genotype, sequence, genome, Neurosciences & Neurology

الوصول الحر: https://gup.ub.gu.se/publication/305559Test

المؤلفون: Engels, D, Lauffer, M, Ammer, A, Hees, MS, Schütz, E, Dethleffsen, K

المصدر: Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA); 20140925-20140927; Hamburg; DOCP185 /20140911/

مصطلحات موضوعية: ddc: 610

العلاقة: Eberhorn N, Schütz E, Breitner S, Mirzoyan L, Dethleffsen K. Peer-teaching - Akzeptanz im Curriculum. Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA). Graz, 26.-28.09.2013. Düsseldorf: German Medical Science GMS Publishing House; 2013. DocP03_07. DOI:10.3205/13gma027; Ten Cate O, Durning S. Peer teaching in medical education: twelve reasons to move from theory to practice. Med Teach. 2007;29(6):591-599. DOI:10.1080/01421590701606799; Yu TC, Wilson NC, Singh PP, Lemanu DP, Hawken SJ, Hill AG. Medical students-as-teachers: a systematic review of peer-assisted teaching during medical school. Adv Med Educ Pract. 2011;2:157-172. DOI:10.2147/AMEP.S14383; http://dx.doi.org/10.3205/14gma052Test; http://nbn-resolving.de/urn:nbn:de:0183-14gma0529Test; http://www.egms.de/en/meetings/gma2014/14gma052.shtmlTest

الإتاحة: https://doi.org/10.3205/14gma052Test
https://doi.org/10.3205/13gma027Test
https://doi.org/10.1080/01421590701606799Test
https://doi.org/10.2147/AMEP.S14383Test
http://nbn-resolving.de/urn:nbn:de:0183-14gma0529Test
http://www.egms.de/en/meetings/gma2014/14gma052.shtmlTest

المؤلفون: Tünnerhoff, HG, Lauffer, M, Thalhammer, G

المصدر: 52. Kongress der Deutschen Gesellschaft für Handchirurgie; 20111006-20111008; Bonn; DOC11dgh25 /20111005/

مصطلحات موضوعية: ddc: 610

العلاقة: http://dx.doi.org/10.3205/11dgh25Test; http://nbn-resolving.de/urn:nbn:de:0183-11dgh255Test; http://www.egms.de/en/meetings/dgh2011/11dgh25.shtmlTest

الإتاحة: https://doi.org/10.3205/11dgh25Test
http://nbn-resolving.de/urn:nbn:de:0183-11dgh255Test
http://www.egms.de/en/meetings/dgh2011/11dgh25.shtmlTest

المؤلفون: Brunhilde Wirth, Sabrina W. Yum, Homa Tajsharghi, Alistair T. Pagnamenta, Andrea H. Németh, Carsten G. Bönnemann, Elgar G, Marks P, Francisca Millan, J Rankin, Matteo P. Ferla, Kaiyrzhanov R, Lassche S, Orioli A, Jenny C. Taylor, Khalid A. Fakhro, Carlo Marcelis, O'Donnell M, Henry Houlden, Chiara Marini-Bettolo, Z Zolkipli-Cunningham, Arianna Tucci, Reza Maroofian, Adam Giess, Heinz Jungbluth, Lavin T, Behnaz Ansari, Yaqun Zou, Mert Karakaya, Ali-Reza Moslemi, Beetz C, Rita Barresi, M O'Driscoll, C C Muraresku, Fiona Norwood, Gutowski N, Francesco Muntoni, A. C. Need, Natalia Dominik, Keivan Basiri, Brusius I, S B Neuhaus, Lauffer M, Andrea Cortese, A.R. Foley, Mary M. Reilly, Anna Sarkozy, Gilbert Wunderlich, Fernandez-Garcia Ma, Sandra Donkervoort, Sahar I. Da'as, Yip J, Maryam Sedghi, Livija Medne

المصدر: Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 584-600

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Neuromuscular Junction, nerve conduction studies, Biology, 03 medical and health sciences, genetics: neuropathy, Young Adult, 0302 clinical medicine, EMG, Collagen VI, medicine, Animals, Humans, Allele, Child, Muscle, Skeletal, Allele frequency, Exome, Exome sequencing, Zebrafish, Aged, Genetics, Extracellular Matrix Proteins, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Behavior, Animal, AcademicSubjects/SCI01870, Haplotype, Original Articles, Neuromuscular Diseases, Motor neuron, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Extracellular Matrix, Pedigree, 030104 developmental biology, medicine.anatomical_structure, whole-genome sequencing, Mutation, AcademicSubjects/MED00310, Female, Neurology (clinical), Trinucleotide repeat expansion, Hereditary Sensory and Motor Neuropathy, hereditary motor and sensory neuropathies, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282bff76a59ea521b5c9e064584e5ff3Test
https://pubmed.ncbi.nlm.nih.gov/33693694Test

المؤلفون: André, Véronique, Bazzo, D., Bidou, Jean-Etienne, Diallo, Bano Nadhel, Diallo, Ibrahima, Lauffer, M., Pestaña, Gilles, Rossi, Georges, Toure, Julien Gbéré

العلاقة: urn:doi:10.4000/com.1030; http://com.revues.org/1030Test

الإتاحة: https://doi.org/10.4000/com.1030Test
http://com.revues.org/1030Test

المؤلفون: Rossi, Georges, Bazzo, D., Lauffer, M.

العلاقة: urn:doi:10.4000/com.1033; http://com.revues.org/1033Test

الإتاحة: https://doi.org/10.4000/com.1033Test
http://com.revues.org/1033Test

المؤلفون: Lauffer, M, Hellwig, M, Schüller, U

المصدر: Klinische Pädiatrie ; 30. Jahrestagung der Kind-Philipp-Stiftung für pädiatrisch-onkologische Forschung ; ISSN 1439-3824

الإتاحة: https://doi.org/10.1055/s-0037-1602207Test

المؤلفون: Zaharieva, I., Lauffer, M., Bollen, E., Aragon-Gawinska, K., Servais, L., Scoto, M., Zhou, H., Muntoni, F.

المصدر: Neuromuscular Disorders ; volume 28, page S111 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2018.06.312Test
https://api.elsevier.com/content/article/PII:S0960896618308757?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896618308757?httpAccept=text/plainTest