المؤلفون: Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, DGM, Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Di Bonaventura, C., Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V.

المصدر: Brain, vol. 145, no. 1, pp. 208-223

مصطلحات موضوعية: Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Myoclonus, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34382076; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_49C7D80FE3EC1; https://serval.unil.ch/notice/serval:BIB_49C7D80FE3ECTest; urn:issn:0006-8950; https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1Test

الإتاحة: https://doi.org/10.1093/brain/awab299Test
https://serval.unil.ch/notice/serval:BIB_49C7D80FE3ECTest
https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1Test

المؤلفون: Lessel, D., Gehbauer, C., Bramswig, N.C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K.L.I., Hempel, M., Haack, T.B., Baresic, A., Genetti, C.A., Funari, M.F.A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Luedecke, H., Lerario, A.M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Sacoto, M.J.G., Gauthier, J., Hamdan, F.F., Laberge, A., Campeau, P.M., Louie, R.J., Cathey, S.S., Prinz, I., Jorge, A.A.L., Terhal, P.A., Lenhard, B., Wieczorek, D., Strom, T.M., Agrawal, P.B., Britsch, S., Tolosa, E., Kubisch, C.

المصدر: Brain 141, 2299-2311 (2018)

مصطلحات موضوعية: Bcl11b, Developmental Delay, Intellectual Disability, Neurodevelopment, Type 2 Innate Lymphoid Cells

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29985992; info:eu-repo/semantics/altIdentifier/wos/WOS:000440991100019; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54173Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awy173Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54173Test

المؤلفون: Gauthier, J., Meijer, I.A., Lessel, D., Mencacci, N.E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M.H., Rodan, L.H., Karamchandani, J., Carecchio, M., Lubbe, S.J., Telegrafi, A., Henderson, L.B., Lorenzo, K., Wallace, S.E., Glass, I.A., Hamdan, F.F., Michaud, J.L., Rouleau, G.A., Campeau, P.M.

المصدر: Ann. Neurol. 83, 1089-1095 (2018)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29518281; info:eu-repo/semantics/altIdentifier/wos/WOS:000439994300004; info:eu-repo/semantics/altIdentifier/isbn/0364-5134; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53217Test; urn:isbn:0364-5134; urn:issn:0364-5134; urn:issn:1531-8249

الإتاحة: https://doi.org/10.1002/ana.25204Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53217Test

المؤلفون: Bramswig, N.C., Ludecke, H.J., Hamdan, F.F., Altmuller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T., Wieczorek, D.

المصدر: Human Genetics, 136, 7, pp. 821-834

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: http://hdl.handle.net/2066/174755Test

الإتاحة: https://doi.org/10.1007/s00439-017-1795-6Test
http://hdl.handle.net/2066/174755Test

المؤلفون: Hamdan, F.F., Myers, C.T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A.D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M.T., Rosenfeld, J.A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B.M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D.R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A.E., Thomas, R.H., Shelagh, J., Hurst, J.A., Brittain, H., Blyth, M., Lebel, R.R., Gerkes, E.H., Davis-Keppen, L., Stein, Q., Chung, W.K., Dorison, S.J., Benke, P.J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E.J., Mau-Them, F.T., Bruel, A.L., Verloes, A., Ounap, K., Wojcik, M.H., Albert, D.V.F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y.C., Mohammad, S.S., Bizargity, P., Bacino, C.A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K.J., Purcarin, G., O'Byrne, J.J., Stockler, S., Lehman, A., Keren, B., Nougues, M.C., Mignot, C., Auvin, S., Nava, C., Hiatt, S.M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S.R., Frye, R.E., Jarjour, I.T., Jacques, S., Boucher, R.M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D'Anjou, G., Bourque, G., Berkovic, S.F., Sadleir, L.G., Campeau, P.M., Kibar, Z., Lafreniere, R.G., Girard, S.L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G.A.

المصدر: American Journal of Human Genetics, 101, 5, pp. 664-685

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: http://hdl.handle.net/2066/182558Test; https://doi.org/10.1016/j.ajhg.2017.09.008Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.008Test
http://hdl.handle.net/2066/182558Test

المؤلفون: Mahmud, A.A., Nahid, N.A., Nassif, C., Sayeed, M.S.B., Ahmed, M.U., Parveen, M., Khalil, M.I., Islam, M.M., Nahar, Z., Rypens, F., Hamdan, F.F., Rouleau, G.A., Hasnat, A., Michaud, J.L.

المساهمون: Fondation Jean-Louis Lévesque

المصدر: Clinical Genetics ; volume 91, issue 3, page 470-475 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12850Test

المؤلفون: Lee, J.R., Srour, M., Kim, D., Hamdan, F.F., Lim, S.H., Brunel-Guitton, C., Decarie, J.C., Rossignol, E., Mitchell, G.A., Schreiber, A., Moran, R., Haren, K. van, Richardson, R., Nicolai, J., Oberndorff, K.M., Wagner, J.D., Boycott, K.M., Rahikkala, E., Junna, N., Tyynismaa, H., Cuppen, I., Verbeek, N.E., Stumpel, C.T., Willemsen, M.A., Munnik, S.A. de, Rouleau, G.A., Kim, E., Kamsteeg, E.J., Kleefstra, T., Michaud, J.L.

المصدر: Human Mutation, 36, 1, pp. 69-78

مصطلحات موضوعية: Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

العلاقة: http://hdl.handle.net/2066/154936Test; https://doi.org/10.1002/humu.22709Test

الإتاحة: https://doi.org/10.1002/humu.22709Test
http://hdl.handle.net/2066/154936Test

المؤلفون: Cappello, S., Gray, M.J., Badouel, C., de Lange, S., Einsiedler, M., Srour, M., Chitayat, D., Hamdan, F.F., Jenkins, Z.A., Morgan, T., Preitner, N., Uster, T., Thomas, J., Shannon, P., Morrison, V., Di Donato, N., van Maldergem, L., Neuhann, T., Newbury-Ecob, R., Swinkells, M., Terhal, P., Wilson, L.C., Zwijnenburg, P.J.G., Sutherland-Smith, A.J., Black, M.A., Markie, D., Michaud, J.L., Simpson, M.A., Mansour, S., McNeill, H., Gotz, M., Robertson, S.P.

المصدر: Cappello , S , Gray , M J , Badouel , C , de Lange , S , Einsiedler , M , Srour , M , Chitayat , D , Hamdan , F F , Jenkins , Z A , Morgan , T , Preitner , N , Uster , T , Thomas , J , Shannon , P , Morrison , V , Di Donato , N , van Maldergem , L , Neuhann , T , Newbury-Ecob , R , Swinkells , M , Terhal , P , Wilson , L C , Zwijnenburg , P J ....

العلاقة: https://research.vumc.nl/en/publications/bf035f1b-0d99-4481-b370-55bd7d8a87c8Test

الإتاحة: https://doi.org/10.1038/ng.2765Test
https://research.vumc.nl/en/publications/bf035f1b-0d99-4481-b370-55bd7d8a87c8Test

المؤلفون: Amrom, D., Tanyalçin, I., Verhelst, H., Deconinck, N., Brouhard, G.J., Décarie, J.‐C., Vanderhasselt, T., Das, S., Hamdan, F.F., Lissens, W., Michaud, J.L., Jansen, A.C.

المصدر: Clinical Genetics ; volume 85, issue 2, page 178-183 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12141Test

المؤلفون: Mahmud, A.A., Nahid, N.A., Nassif, C., Sayeed, M.S.B., Ahmed, M.U., Parveen, M., Khalil, M.I., Islam, M.M., Nahar, Z., Rypens, F., Hamdan, F.F., Rouleau, G.A., Hasnat, A., Michaud, J.L.

المصدر: Clinical Genetics; Mar2017, Vol. 91 Issue 3, p470-475, 6p, 2 Color Photographs

مصطلحات موضوعية: PROPRIOCEPTION, CONTRACTURE (Pathology), GENETIC mutation, ARTHROGRYPOSIS, GENES, MECHANOTRANSDUCTION (Cytology)