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1دورية أكاديمية
المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.
المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
وصف الملف: application/octet-stream
العلاقة: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123Test
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2دورية أكاديمية
المؤلفون: Archibald, A.D., McClaren, B.J., Caruana, J., Tutty, E., King, E.A., Halliday, J.L., Best, S., Kanga-Parabia, A., Bennetts, B.H., Cliffe, C.C., Madelli, E.O., Ho, G., Liebelt, J., Long, J.C., Braithwaite, J., Kennedy, J., Massie, J., Emery, J.D., McGaughran, J., Marum, J.E.
مصطلحات موضوعية: reproductive genetic carrier screening, implementation science, bioethics, health economics, psychosocial outcomes
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/GNT1113531Test; http://purl.org/au-research/grants/nhmrc/GNT2000001Test; http://purl.org/au-research/grants/nhmrc/1117510Test; Journal of Personalized Medicine, 2022; 12(11):1781-1-1781-25; https://hdl.handle.net/2440/138695Test; Hardy, T. [0000-0002-5878-0340]
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3دورية أكاديمية
المؤلفون: de Hoon, B., Splinter, Erik, Eussen, B., Douben, J. C. W., Rentmeester, E., van de Heijning, M., Laven, J. S. E., de Klein, J. E. M. M., Liebelt, J., Gribnau, J.
المصدر: Philosophical Transactions: Biological Sciences, 2017 Nov 01. 372(1733), 1-8.
الوصول الحر: https://www.jstor.org/stable/44679439Test
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4دورية أكاديمية
المؤلفون: Geisheker, MR, Heymann, G, Wang, TY, Coe, BP, Turner, TN, Stessman, HAF, Hoekzema, K, Kvarnung, M, Shaw, M, Friend, K, Liebelt, J, Barnett, C, Thompson, EM, Haan, E, Guo, H, Anderlid, BM, Nordgren, A, Lindstrand, A, Vandeweyer, G, Alberti, A, Avola, E, Vinci, M, Giusto, S, Pramparo, T, Pierce, K, Nalabolu, S, Michaelson, JJ, Sedlacek, Z, Santen, GWE, Peeters, H, Hakonarson, H, Courchesne, E, Romano, C, Kooy, RF, Bernier, RA, Nordenskjold, M, Gecz, J, Xia, K, Zweifel, LS, Eichler, EE
المصدر: Nature neuroscience. 20(8):1043
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Stessman, HAF, Xiong, B, Coe, BP, Wang, TY, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, Vives, L, Lin, J, Turner, TN, Santen, G, Ruivenkamp, C, Kriek, M, van Haeringen, A, Aten, E, Friend, K, Liebelt, J, Barnett, C, Haan, E, Shaw, M, Gecz, J, Anderlid, BM, Nordgren, A, Lindstrand, A, Schwartz, C, Kooy, RF, Vandeweyer, G, Helsmoortel, C, Romano, C, Alberti, A, Vinci, M, Avola, E, Giusto, S, Courchesne, E, Pramparo, T, Pierce, K, Nalabolu, S, Amaral, DG, Scheffer, IE, Delatycki, MB, Lockhart, PJ, Hormozdiari, F, Harich, B, Castells-Nobau, A, Xia, K, Peeters, H, Nordenskjold, M, Schenck, A, Bernier, RA, Eichler, EE
المصدر: Nature genetics. 49(4):515
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Piening, S.
المصدر: Mulder , P A , van Balkom , I D C , Landlust , A M , Priolo , M , Menke , L A , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , Gonzalez , N G , Huber , I , Iascone , M , Kaiser , ....
مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1111/jir.12787Test
https://hdl.handle.net/11370/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://pure.rug.nl/ws/files/169311508/jir.12787.pdfTest -
7دورية أكاديمية
المؤلفون: Souzeau, E., Siggs, O.M., Pasutto, F., Knight, L.S.W., Perez-Jurado, L.A., McGregor, L., Le Blanc, S., Barnett, C.P., Liebelt, J., Craig, J.E.
مصطلحات موضوعية: Axenfeld-Rieger syndrome, FOXC1, PITX2, facial dysmorphism
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; http://purl.org/au-research/grants/nhmrc/1154824Test; American Journal of Medical Genetics Part A, 2020; 185(2):434-439; http://hdl.handle.net/2440/130083Test; Perez-Jurado, L.A. [0000-0002-1988-3005]; Barnett, C.P. [0000-0003-1717-3824]
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8دورية أكاديمية
المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.
المصدر: American Journal of Human Genetics, 110, 6, pp. 963-978
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1016Test/j.ajhg.2023.04.008
https://repository.ubn.ru.nl/handle/2066/293631Test -
9دورية أكاديمية
المؤلفون: Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM
العلاقة: Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortes, F. M. ,. Messiaen, L. M. (2019). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. HUMAN MUTATION, 41 (1), pp.299-315. https://doi.org/10.1002/humu.23929Test.; http://hdl.handle.net/11343/304382Test
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10دورية أكاديمية
المؤلفون: Frints, S., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S., Kammoun, M., Gripp, K., Bauer, C., Schroeder, C., Toutain, A., Mihalic Mosher, T., Kelly, B., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D., van Roozendaal, K., Hu, H., Haas, S., Ropers, H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V.
المصدر: Molecular Psychiatry
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29728705; http://hdl.handle.net/21.11116/0000-0001-4C60-ETest; http://hdl.handle.net/21.11116/0000-0006-09E9-ATest
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