المؤلفون: Wilson, L.A., Macken, W.L., Perry, L.D., Record, C.J., Schon, K.R., Frezatti, R.S.S., Raga, S., Naidu, K., Köken, Ö.Y., Polat, I., Kapapa, M.M., Dominik, N., Efthymiou, S., Morsy, H., Nel, M., Fassad, M.R., Gao, F., Patel, K., Schoonen, M., Bisschoff, M., Vorster, A., Jonvik, H., Human, R., Lubbe, E., Nonyane, M., Vengalil, S., Nashi, S., Srivastava, K., Lemmers, R.J.L.F., Reyaz, A., Mishra, R., Töpf, A., Trainor, C.I., Steyn, E.C., Mahungu, A.C., Vliet, P.J. van der, Ceylan, A.C., Hiz, A.S., Çavdarli, B., Gündüz, C.N.S., Ceylan, G.G., Nagappa, M., Tallapaka, K.B., Govindaraj, P., Maarel, S.M. van der, Narayanappa, G., Nandeesh, B.N., Somwe, S.W., Bearden, D.R., Kvalsund, M.P., Ramdharry, G.M., Oktay, Y., Yis, U., Topaloglu, H., Sarkozy, A., Bugiardini, E., Henning, F., Wilmshurst, J.M., Heckmann, J.M., McFarland, R., Taylor, R.W., Smuts, I., Westhuizen, F.H. van der, Sobreira, C.F.D., Tomaselli, P.J., Marques, W., Bhatia, R., Dalal, A., Srivastava, M.V.P., Yareeda, S., Nalini, A., Vishnu, V.Y., Thangaraj, K., Straub, V., Horvath, R., Chinnery, P.F., Pitceathly, R.D.S., Muntoni, F., Houlden, H., Vandrovcova, J., Reilly, M.M., Hanna, M.G.

المصدر: Brain

مصطلحات موضوعية: genomic medicine, inherited neuromuscular disease, capacity building, low-to-middle income country, equality and diversity

وصف الملف: application/pdf

Relation: https://academic.oup.com/brain/article/146/12/5098/7233759; lumc-id: 185968447; https://hdl.handle.net/1887/3731517

الاتاحة: https://hdl.handle.net/1887/3731517
https://academic.oup.com/brain/article/146/12/5098/7233759
https://doi.org/10.1093/brain/awad254

المؤلفون: Smith, A.A., Nip, Y., Bennett, S.R., Hamm, D.C., Lemmers, R.J.L.F., Vliet, P.J. van der, Setty, M., Maarel, S.M. van der, Tapscott, S.J.

المصدر: Cell Reports

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S2211124723011257?via%3Dihub; lumc-id: 185968186; https://hdl.handle.net/1887/3731515

الاتاحة: https://hdl.handle.net/1887/3731515
https://www.sciencedirect.com/science/article/pii/S2211124723011257?via%3Dihub
https://doi.org/10.1016/j.celrep.2023.113114

المؤلفون: Efthymiou, S., Lemmers, R.J.L.F., Vishnu, V.Y., Dominik, N., Perrone, B., Facchini, S., Vegezzi, E., Ravaglia, S., Wilson, L., Vliet, P.J. van der, Mishra, R., Reyaz, A., Ahmad, T., Bhatia, R., Polke, J.M., Srivastava, M.P., Cortese, A., Houlden, H., Maarel, S.M. van der, Hanna, M.G., Bugiardini, E.

المصدر: Biomolecules

مصطلحات موضوعية: FSHD, optical genome mapping, Bionano Genomics

وصف الملف: application/pdf

Relation: https://www.mdpi.com/2218-273X/13/11/1567; lumc-id: 185968718; https://hdl.handle.net/1887/3731519

الاتاحة: https://hdl.handle.net/1887/3731519
https://www.mdpi.com/2218-273X/13/11/1567
https://doi.org/10.3390/biom13111567

المؤلفون: Lemmers, R.J.L.F., Butterfield, R., Vliet, P.J. van der, Bleecker, J.L. de, Pol, L. van der, Dunn, D.M., Erasmus, C.E., D'Hooghe, M., Verhoeven, K., Balog, J., Bigot, A., Engelen, B. van, Statland, J., Bugiardini, E., Stoep, N. van der, Evangelista, T., Marini-Bettolo, C., Bergh, P. van den, Tawil, R., Voermans, N.C., Vissing, J., Weiss, R.B., Maarel, S.M. van der

المصدر: Brain

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, FSHD, duplications, DUX4

وصف الملف: application/pdf

Relation: lumc-id: 185905511; https://hdl.handle.net/1887/3722127

الاتاحة: https://hdl.handle.net/1887/3722127
https://doi.org/10.1093/brain/awad312

المؤلفون: Lemmers, R.J.L.F., Vliet, P.J. van der, Blatnik, A., Balog, J., Zidar, J., Henderson, D., Goselink, R., Tapscott, S.J., Voermans, N.C., Tawil, R., Padberg, G.W.A.M., Engelen, B.G.M. van, Maarel, S.M. van der

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: gene rearrangement, neuromuscular diseases, gene expression, diagnosis, genetic research

وصف الملف: application/pdf

Relation: lumc-id: 174652988; https://hdl.handle.net/1887/3563676

الاتاحة: https://hdl.handle.net/1887/3563676
https://doi.org/10.1136/jmedgenet-2020-107041

المؤلفون: Lemmers, R.J.L.F., Vliet, P.J. van der, Granado, D.S., Stoep, N. van der, Buermans, H., Schendel, R. van, Schimmel, J., Visser, M. de, Coster, R. van, Jeanpierre, M., Laforet, P., Upadhyaya, M., Engelen, B. van, Sacconi, S., Tawil, R., Voermans, N.C., Rogers, M., Maarel, S.M. van der

المصدر: Human Molecular Genetics

وصف الملف: application/pdf

Relation: lumc-id: 174654199; https://hdl.handle.net/1887/3563680

الاتاحة: https://hdl.handle.net/1887/3563680
https://doi.org/10.1093/hmg/ddab250

المؤلفون: Bruels, C.C., Littel, H.R., Daugherty, A.L., Stafki, S., Estrella, E.A., McGaughy, E.S., Truong, D., Badalamenti, J.P., Pais, L., Ganesh, V.S., O'Donnell-Luria, A., Stalker, H.J., Wang, Y., Collins, C., Behlmann, A., Lemmers, R.J.L.F., Maarel, S.M. van der, Laine, R., Ghosh, P.S., Darras, B.T., Zingariello, C.D., Pacak, C.A., Kunkel, L.M., Kang, P.B.

المصدر: Annals of Clinical and Translational Neurology

وصف الملف: application/pdf

Relation: lumc-id: 174653661; https://hdl.handle.net/1887/3563677

الاتاحة: https://hdl.handle.net/1887/3563677
https://doi.org/10.1002/acn3.51612

المؤلفون: Beijer, D., Kim, H.J., Guo, L., O'Donovan, K., Mademan, I., Deconinck, T., Schil, K. van, Fare, C.M., Drake, L.E., Ford, A.F., Kochanski, A., Kabzinska, D., Dubuisson, N., Bergh, P. van den, Voermans, N.C., Lemmers, R.J.L.F., Maarel, S.M. van der, Bonner, D., Sampson, J.B., Wheeler, M.T., Mehrabyan, A., Palmer, S., Jonghe, P. de, Shorter, J., Taylor, J.P., Baets, J.

المصدر: JCI Insight

وصف الملف: application/pdf

Relation: http://insight.jci.org/articles/view/148363/files/pdf; lumc-id: 120545872; https://hdl.handle.net/1887/3214438

الاتاحة: https://hdl.handle.net/1887/3214438
http://insight.jci.org/articles/view/148363/files/pdf
https://doi.org/10.1172/jci.insight.148363

المؤلفون: Schaap, M., Lemmers, R.J.L.F., Maassen, R., van der Vliet, P.J., Hoogerheide, L.F., van Dijk, H.K., Basturk, N., de Knijff, P., van der Maarel, S.M.

المصدر: Schaap , M , Lemmers , R J L F , Maassen , R , van der Vliet , P J , Hoogerheide , L F , van Dijk , H K , Basturk , N , de Knijff , P & van der Maarel , S M 2013 , ' Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions ' , BMC Genomics , vol. 14 , no. 143 , pp. 1-12 . https://doi.org/10.1186/1471-2164-14-143

Relation: https://research.vu.nl/en/publications/f0d72ce1-09bf-4227-a036-bc3d70ea9a6a

الاتاحة: https://research.vu.nl/en/publications/f0d72ce1-09bf-4227-a036-bc3d70ea9a6a
https://doi.org/10.1186/1471-2164-14-143
https://hdl.handle.net/1871.1/f0d72ce1-09bf-4227-a036-bc3d70ea9a6a

المؤلفون: Hamanaka, K., Sikrova, D., Mitsuhashi, S., Masuda, H., Sekiguchi, Y., Sugiyama, A., Shibuya, K., Lemmers, R.J.L.F., Goossens, R., Ogawa, M., Nagao, K., Obuse, C., Noguchi, S., Hayashi, Y.K., Kuwabara, S., Balog, J., Nishino, I., Maarel, S.M. van der

المصدر: Neurology

وصف الملف: application/pdf

Relation: https://n.neurology.org/content/94/23/e2441; lumc-id: 111836219; https://hdl.handle.net/1887/3184666

الاتاحة: https://hdl.handle.net/1887/3184666
https://n.neurology.org/content/94/23/e2441
https://doi.org/10.1212/WNL.0000000000009617

المؤلفون: Goselink, R.J.M., Mul, K., Kernebeek, C.R. van, Lemmers, R.J.L.F., Maarel, S.M. van der, Schreuder, T.H.A., Erasmus, C.E., Padberg, G.W., Statland, J.M., Voermans, N.C., Engelen, B.G.M. van

المصدر: Neurology

Relation: lumc-id: 81356390; https://hdl.handle.net/1887/122250

الاتاحة: https://hdl.handle.net/1887/122250
https://doi.org/10.1212/WNL.0000000000006819

المؤلفون: Sacconi, S., Briand-Suleau, A., Gros, M., Baudoin, C., Lemmers, R.J.L.F., Rondeau, S., Lagha, N., Nigumann, P., Cambieri, C., Puma, A., Chapon, F., Stojkovic, T., Vial, C., Bouhour, F., Cao, M., Pegoraro, E., Petiot, P., Behin, A., Marc, B., Eymard, B., Echaniz-Laguna, A., Laforet, P., Salviati, L., Jeanpierre, M., Cristofari, G., Maarel, S.M. van der

المصدر: Neurology

Relation: lumc-id: 81356545; https://hdl.handle.net/1887/122251

الاتاحة: https://hdl.handle.net/1887/122251
https://doi.org/10.1212/WNL.0000000000007456

المؤلفون: Wal, E. van der, Hamer, B. den, Vliet, P.J. van der, Tok, M., Brands, T., Eussen, B., Lemmers, R.J.L.F., Freund, C., Klein, A. de, Buijsen, R.A.M., Roon-Mom, W.M.C. van, Tawil, R., Maarel, S.M. van der, Greef, J.C. de

المصدر: Stem Cell Research

Relation: lumc-id: 81356700; https://hdl.handle.net/1887/122252

الاتاحة: https://hdl.handle.net/1887/122252
https://doi.org/10.1016/j.scr.2019.101560

المؤلفون: Voermans, N.C., Bilt, R.C. van der, IJspeert, J., Hogrel, J.Y., Jeanpierre, M., Behin, A., Laforet, P., Stojkovic, T., Engelen, B.G. van, Padberg, G.W., Sacconi, S., Lemmers, R.J.L.F., Maarel, S.M. van der, Eymard, B., Bassez, G.

المصدر: Journal of Neurology

مصطلحات موضوعية: DM1, Myotonic dystrophy, Scapular dyskinesis, Scapular winging, Shoulder weakness, FSHD

Relation: lumc-id: 81356925; https://hdl.handle.net/1887/122253

الاتاحة: https://hdl.handle.net/1887/122253
https://doi.org/10.1007/s00415-019-09494-8

المؤلفون: Goossens, R., Boogaard, M.L. van den, Lemmers, R.J.L.F., Balog, J., Vliet, P.J. van der, Willemsen, I.M., Schouten, J., Maggio, I., Stoep, N. van der, Hoeben, R.C., Tapscott, S.J., Geijsen, N., Goncalves, M.A.F.V., Sacconi, S., Tawil, R., Maarel, S.M. van der

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Muscular Dystrophy, Facioscapulohumeral, SMCHD1, DUX4, CRISPR-Associated Protein 9, intronic variant

Relation: lumc-id: 81336987; https://hdl.handle.net/1887/122212

الاتاحة: https://hdl.handle.net/1887/122212
https://doi.org/10.1136/jmedgenet-2019-106402

المؤلفون: Wal, E. (Erik) van der, Den Hamer, B. (Bianca), Vliet, P.J. (Patrick) van der, Tok, M. (Merve), Brands, T. (Tom), Eussen, H.J.F.M.M. (Bert), Lemmers, R.J.L.F. (Richard), Freund, C. (Christian), Klein, A. (Annelies) de, Buijsen, R.A.M. (Ronald), Roon-Mom, W.M.C. (Willeke) van, Tawil, R. (Rabi), Maarel, S.M. (Silvre) van der, Greef, J.C. (Jessica) de

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/119548

المؤلفون: Goselink, R.J.M., Kernebeek, C.R. van, Mul, K., Lemmers, R.J.L.F., Maarel, S.M. van der, Brouwer, O.F., Voermans, N.C., Padberg, G.W.A.M., Erasmus, C.E., Engelen, B.G.M. van

المصدر: European Journal of Paediatric Neurology, 22, 5, pp. 782-785

مصطلحات موضوعية: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/196590; http://dx.doi.org/10.1016/j.ejpn.2018.04.013

الاتاحة: http://hdl.handle.net/2066/196590
https://doi.org/10.1016/j.ejpn.2018.04.013

المؤلفون: Jansen, H., Dirks, R.P., Liem, M., Henkel, C.V., Heusden, G.P.H van, Lemmers, R.J.L.F., Omer, T., Shai, S., Punt, P.J., Spaink, H.P.

المصدر: F1000Research

وصف الملف: application/pdf

Relation: https://f1000research.com/articles/6-618/v2; lucris-id: 81028405; https://hdl.handle.net/1887/55252

الاتاحة: https://hdl.handle.net/1887/55252
https://f1000research.com/articles/6-618/v2
https://doi.org/10.12688/f1000research.11146.2

المؤلفون: Mul, K., Voermans, N.C., Lemmers, R.J.L.F., Jonker, M.A., Vliet, P.J. van der, Padberg, G.W., Engelen, B.G.M. van, Maarel, S.M. van der, Horlings, C.G.C.

المصدر: Clinical Genetics

مصطلحات موضوعية: disease modifiers, epigenetics, facioscapulohumeral muscular dystrophy (FSHD), genotype, phenotype

وصف الملف: application/pdf

Relation: lumc-id: 57086035; https://hdl.handle.net/1887/86396

الاتاحة: https://hdl.handle.net/1887/86396
https://doi.org/10.1111/cge.13446

المؤلفون: Lemmers, R.J.L.F., Vliet, P.J. van der, Balog, J., Goeman, J.J., Arindrarto, W., Krom, Y.D., Straasheijm, K.R., Debipersad, R.D., Ozel, G., Sowden, J., Snider, L., Mul, K., Sacconi, S., Engelen, B. van, Tapscott, S.J., Tawil, R., Maarel, S.M. van der

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838976/; lumc-id: 44593682; https://hdl.handle.net/1887/75322

الاتاحة: https://hdl.handle.net/1887/75322
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838976/
https://doi.org/10.1038/s41431-017-0015-0