المؤلفون: Willmann, Raffaella, Buccella, Filippo, De Luca, Annamaria, Grounds, Miranda D., Versnel, J., Vroom, E., Ribeiro, D., Ambrosini, A, Pavlath, G., Porter, J., Dziewczapolski, G, Dubowitz, V., Lochmüller, H, Campbell, K., Davies, K., Roth, K. A., Clark, A., Clementi, E., Nagaraju, K., Goemans, N., Straub, V., Klein, A., van Putten, M., Fries, M., Sheean, M., Tinsley, J., Girgenrath, M.

المساهمون: Willmann, Raffaella, Buccella, Filippo, De Luca, Annamaria, Grounds, Miranda D., Versnel, J., Vroom, E., Ribeiro, D., Ambrosini, A, Pavlath, G., Porter, J., Dziewczapolski, G, Dubowitz, V., Lochmüller, H, Campbell, K., Davies, K., Roth, K. A., Clark, A., Clementi, E., Nagaraju, K., Goemans, N., Straub, V., Klein, A., van Putten, M., Fries, M., Sheean, M., Tinsley, J., Girgenrath, M.

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

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29361397; info:eu-repo/semantics/altIdentifier/wos/WOS:000428487300014; volume:28; issue:2; firstpage:185; lastpage:192; numberofpages:8; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11586/208851Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040579236; www.elsevier.com/locate/nmd

الإتاحة: https://doi.org/10.1016/j.nmd.2017.11.002Test
http://hdl.handle.net/11586/208851Test

المؤلفون: Finkel, Richard S., Sejersen, Thomas, Mercuri, Eugenio, Bertini, E., Chen, K., Crawford, T.O., Dubowitz, V., de Lemus, M., Graham, R., Hurst Davis, R., Iannaccone, S., Kirschner, J., Main, M., Mayer, O., Mazzone, E., Montes, J., Muntoni, F., Murphy, A., Quijano-Roy, S., Robertson, A., Schroth, M., Simonds, A., Snyder, B., Vitale, M., Wittchen, A., Woods, S., Qian, Y., Wirth, B.

المساهمون: European Neuromuscular Centre (ENMC), Association Française contre les Myopathies, Deutsche Gesellschaft für Muskelkranke, Muscular Dystrophy UK, Muskelsvindfonden, Prinses Beatrix Spierfonds, Schweizerische Stiftung für die Erforschung der Muskelkrankheiten, Telethon Foundation, Spierziekten Nederland, Finnish Neuromuscular Association, LGMD2I research Fund, Cure CMD

المصدر: Neuromuscular Disorders ; volume 27, issue 6, page 596-605 ; ISSN 0960-8966

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

الإتاحة: https://doi.org/10.1016/j.nmd.2017.02.014Test
https://api.elsevier.com/content/article/PII:S0960896617301384?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0960896617301384?httpAccept=text/xmlTest

المؤلفون: Appleyard, S. T., Dunn, M. J., Dubowitz, V., Scott, M. L., Pittman, S. J., Shotton, D. M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1984 Feb 01. 81(3), 776-780.

الوصول الحر: https://www.jstor.org/stable/23693Test

المؤلفون: Naom, I., D'alessandro, M., Sewry, C. A., Jardine, Philip, Ferlini, A., Moss, Tim, Dubowitz, V., Muntoni, F.

مصطلحات موضوعية: Articles

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/123/1/31Test; http://dx.doi.org/10.1093/brain/123.1.31Test

الإتاحة: https://doi.org/10.1093/brain/123.1.31Test
http://brain.oxfordjournals.org/cgi/content/short/123/1/31Test

المؤلفون: Brockington, M, Sewry, CA, Herrmann, R, Naom, I, Dearlove, A, Rhodes, M, Topaloglu, H, Dubowitz, V, Voit, T, Muntoni, F

المساهمون: Tıbbi Biyoloji

مصطلحات موضوعية: Genetics & Heredity

وصف الملف: text/plain; application/pdf

العلاقة: American Journal Of Human Genetics; https://doi.org/10.1086/302775Test; http://hdl.handle.net/11655/16431Test; 66; 428; 435

الإتاحة: https://doi.org/10.1086/302775Test
http://hdl.handle.net/11655/16431Test

المؤلفون: Philpot, J, Bagnall, A, King, C, Dubowitz, V, Muntoni, F

مصطلحات موضوعية: Original articles

وصف الملف: text/html

العلاقة: http://adc.bmj.com/cgi/content/short/80/6/542Test; http://dx.doi.org/10.1136/adc.80.6.542Test

الإتاحة: https://doi.org/10.1136/adc.80.6.542Test
http://adc.bmj.com/cgi/content/short/80/6/542Test

المؤلفون: Androphy, E.J., Arnold, W.D., Beattie, C.E., Bordet, T., Boyd, P.J., Burghes, A.H.M., Butchbach, M.E.R., Calder, A.N., Chen, K.S., Cherry, J.J., Corti, S.P., Crawford, T.O., Darras, B.T., De Vivo, D.C., Deguise, M.O., DiDonato, C.J., Dreyfuss, G., Dubowitz, V., Ebert, A.D., Faravelli, I., Finkel, R.S., Fischbeck, K.H., Fletcher, E.V., Foust, K.D., Garcia, E.L., Gillingwater, T.H., Hammers, D., Hao, L.T., Hart, A.C., Hodgetts, K.J., Howell, M.D., Hua, Y., Iannaccone, S.T., Jarecki, J., Kaspar, B.K., Kolb, S.J., Kong, L., Kothary, R., Krainer, A.R., Le Verche, V., Lorson, C.L., Lutz, C.M., MacKenzie, A., Matera, A.G., Mazzone, E.S., McGovern, V.L., Melki, J., Mendoza-Ferreira, N., Mentis, G.Z., Mercuri, E.

المصدر: Spinal Muscular Atrophy ; page xi-xii

الإتاحة: https://doi.org/10.1016/b978-0-12-803685-3.01002-8Test
https://api.elsevier.com/content/article/PII:B9780128036853010028?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128036853010028?httpAccept=text/plainTest

المؤلفون: Dubowitz, V.

المصدر: Spinal Muscular Atrophy ; page xvii-xxi

الإتاحة: https://doi.org/10.1016/b978-0-12-803685-3.06002-xTest
https://api.elsevier.com/content/article/PII:B978012803685306002X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B978012803685306002X?httpAccept=text/plainTest

المؤلفون: Naom, I S, D'Alessandro, M, Topaloglu, H, Sewry, C, Ferlini, A, Helbling-Leclerc, A, Guicheney, P, Weissenbach, J, Schwartz, K, Bushby, K, Philpot, J, Dubowitz, V, Muntoni, F

مصطلحات موضوعية: Research Article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/34/2/99Test; http://dx.doi.org/10.1136/jmg.34.2.99Test

الإتاحة: https://doi.org/10.1136/jmg.34.2.99Test
http://jmg.bmj.com/cgi/content/short/34/2/99Test

المؤلفون: Quinlivan, RM, Robb, SA, Sewry, C., Dubowitz, V., Piccolo, F., Kaplan, JC

المصدر: Developmental Medicine & Child Neurology ; volume 39, issue 11, page 770-774 ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/j.1469-8749.1997.tb07381.xTest