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1دورية أكاديمية
المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., Frederix, G. W.J., Oegema, R.
المصدر: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s00431-023-04909-1Test
https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3Test
https://pure.eur.nl/ws/files/90570361/Rapid_exome_sequencing_as_a_first_tier_test_in_neonates_with_suspected_genetic_disorder_results_of_a_prospective_multicenter_clinical_utility_study_in_the_Netherlands.pdfTest
http://www.scopus.com/inward/record.url?scp=85151442453&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Laan, L. van der, Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M.A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A.K., Li, D., Vissers, L.E.L.M., Dingemans, A.J.M., Valenzuela, I., Verberne, E.A., Misra-Isrie, M., Zwijnenburg, P.J., Waisfisz, Q., Alders, M., Sailer, S., Schaaf, C.P., Mannens, M., Sadikovic, B., Haelst, M.M. van, Henneman, P.
المصدر: Genetics in Medicine, 26, 3, pp. 101050
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders Human Genetics
الإتاحة: https://doi.org/10.1016/j.gim.2023.101050Test
https://repository.ubn.ru.nl/handle/2066/305178Test -
3دورية أكاديمية
المؤلفون: Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E.P., van Oosterhoud, C. N., Claes, K. B.M., Paulussen, A. D.C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T.R.M., Broen, M. P.G., Spruijt, L., Jongmans, M. C.J., Lesnik Oberstein, S. A.J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W.J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.
المساهمون: CMM Groep Cuppen, MS Urologische Oncologie, Cancer, Genetica, Genetica Klinische Genetica, Child Health, Psychosociale zorg patientenzorg, Other research (not in main researchprogram)
مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article
وصف الملف: application/pdf
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4
المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W.J., Oegema, R.
المساهمون: Clinical Genetics, Pediatric Surgery, Radiology & Nuclear Medicine, Internal Medicine, Department of Finance, Cell biology, Cardiothoracic Surgery, Molecular Genetics, Pathology, Erasmus School of Law, Health Economics (HE)
المصدر: European Journal of Pediatrics. Springer-Verlag
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::afa0a389c2188bae2fdfdb912053777eTest
https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3Test -
5دورية أكاديمية
المؤلفون: Maia, N., Ibarluzea, N., Misra-Isrie, M., Koboldt, D.C., Marques, I., Soares, G., Santos, R., Marcelis, C.L.M., Keski-Filppula, R., Guitart, M., Gabau Vila, E., Lehman, A., Hickey, S., Mori, M., Terhal, P., Valenzuela, I., Lasa-Aranzasti, A., Cueto-González, A.M., Chhouk, B.H., Yeh, R.C., Neil, J.E., Abu-Libde, B., Kleefstra, T., Elting, M.W., Császár, A., Kárteszi, J., Bessenyei, B., Bokhoven, H. van, Jorge, P., Hagen, J.M. van, Brouwer, A.P.M. de
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290821/290821.pdfTest; https://repository.ubn.ru.nl/handle/2066/290821Test
الإتاحة: https://doi.org/10.1002/ajmg.a.63004Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290821/290821.pdfTest
https://repository.ubn.ru.nl/handle/2066/290821Test -
6دورية أكاديمية
المؤلفون: Aerden, M., Denommé-Pichon, A.S., Bonneau, D., Bruel, A.L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Mau-Them, F.T., Viora-Dupont, E., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P.Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., Haelst, M. van, Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F.G., Bramswig, N.C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Torring, P.M., Renieri, A., Bruno, L.P., Ounap, K., Wojcik, M., Hsieh, T.C., Krawitz, P., Esch, H. van
المصدر: European Journal of Human Genetics
وصف الملف: application/pdf
العلاقة: https://www.nature.com/articles/s41431-023-01307-xTest; lumc-id: 185870270; https://hdl.handle.net/1887/3750384Test
الإتاحة: https://doi.org/10.1038/s41431-023-01307-xTest
https://hdl.handle.net/1887/3750384Test
https://www.nature.com/articles/s41431-023-01307-xTest -
7دورية أكاديمية
المؤلفون: Laan, L. van der, Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M.A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M.L., Vissers, L.E.L.M., Koene, S., Ruivenkamp, C., Hoffer, M.J.V., Wieczorek, D., Bramswig, N.C., Herget, T., Gonzalez, V.L., Santos-Simarro, F., Torring, P.M., Denomme-Pichon, A.S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P.Y., Misra-Isrie, M., Esch, H. van, Mannens, M.M.A.M., Sadikovic, B., Haelst, M.M. van, Henneman, P.
المصدر: International Journal of Molecular Sciences
مصطلحات موضوعية: TRIP12, Clark-Baraitser syndrome, intellectual disability, DNA methylation, episignature
وصف الملف: application/pdf
العلاقة: lumc-id: 176346978; https://hdl.handle.net/1887/3561446Test
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8دورية أكاديمية
المؤلفون: Houtman S. J., Lammertse H. C. A., van Berkel A. A., Balagura G., Gardella E., Ramautar J. R., Reale C., Moller R. S., Zara F., Striano P., Misra-Isrie M., van Haelst M. M., Engelen M., van Zuijen T. L., Mansvelder H. D., Verhage M., Bruining H., Linkenkaer-Hansen K.
المساهمون: Houtman, S. J., Lammertse, H. C. A., van Berkel, A. A., Balagura, G., Gardella, E., Ramautar, J. R., Reale, C., Moller, R. S., Zara, F., Striano, P., Misra-Isrie, M., van Haelst, M. M., Engelen, M., van Zuijen, T. L., Mansvelder, H. D., Verhage, M., Bruining, H., Linkenkaer-Hansen, K.
مصطلحات موضوعية: aperiodic exponent, EEG, excitation-inhibition balance, fE/I, MUNC18-1, SNAREopathies
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35002760; info:eu-repo/semantics/altIdentifier/wos/WOS:000743013300001; volume:12; firstpage:1; lastpage:17; numberofpages:17; journal:FRONTIERS IN PHYSIOLOGY; http://hdl.handle.net/11567/1080618Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122368390
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9دورية أكاديمية
المؤلفون: Koster, R, Brandão, R D, Tserpelis, D, van Roozendaal, C E P, van Oosterhoud, C N, Claes, K B M, Paulussen, A D C, Sinnema, M, Vreeburg, M, van der Schoot, V, Stumpel, C T R M, Broen, M P G, Spruijt, L, Jongmans, M C J, Lesnik Oberstein, S A J, Plomp, A S, Misra-Isrie, M, Duijkers, F A, Louwers, M J, Szklarczyk, R, Derks, K W J, Brunner, H G, van den Wijngaard, A, van Geel, M, Blok, M J
المصدر: Koster , R , Brandão , R D , Tserpelis , D , van Roozendaal , C E P , van Oosterhoud , C N , Claes , K B M , Paulussen , A D C , Sinnema , M , Vreeburg , M , van der Schoot , V , Stumpel , C T R M , Broen , M P G , Spruijt , L , Jongmans , M C J , Lesnik Oberstein , S A J , Plomp , A S , Misra-Isrie , M , Duijkers , F A , Louwers , M ....
الإتاحة: https://doi.org/10.1038/s41525-021-00258-wTest
https://research.vumc.nl/en/publications/2f8d0576-9586-4da5-aa97-e128743fab62Test -
10دورية أكاديمية
المؤلفون: Schieving, J.H., Bot, S.T. de, Pol, L.A. van de, Wolf, N.I., Brilstra, E.H., Frints, S.G., Gaalen, J. van, Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C.C., Kamsteeg, E.J., Warrenburg, B.P.C. van de, Willemsen, M.A.
المصدر: Brain, 142, 7, pp. e31
مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/208476/208476.pdfTest; http://hdl.handle.net/2066/208476Test
الإتاحة: https://doi.org/10.1093/brain/awz140Test
http://hdl.handle.net/2066/208476Test
https://repository.ubn.ru.nl//bitstream/handle/2066/208476/208476.pdfTest
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