المؤلفون: Zollino, M, Zweier, C, Van Balkom, ID, Sweetser, DA, Alaimo, J, Bijlsma, EK, Cody, J, Elsea, SH, Giurgea, I, Macchiaiolo, M, Smigiel, R, Thibert, RL, Benoist, I, Clayton-Smith, J, De Winter, CF, Deckers, S, Gandhi, A, Huisman, S, Kempink, D, Kruisinga, F, Lamacchia, V, Marangi, G, Menke, L, Mulder, P, Nordgren, A, Renieri, A, Routledge, S, Saunders, CJ, Stembalska, A, Van Balkom, H, Whalen, S, Hennekam, RC

المصدر: Clinical genetics. 95(4):462-478

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140591061Test

المؤلفون: Matthews, HS, Palmer, RL, Baynam, GS, Quarrell, OW, Klein, OD, Spritz, RA, Hennekam, RC, Walsh, S, Shriver, M, Weinberg, SM, Hallgrimsson, B, Hammond, P, Penington, AJ, Peeters, H, Claes, PD

العلاقة: pii: 10.1038/s41598-021-91465-z; Matthews, H. S., Palmer, R. L., Baynam, G. S., Quarrell, O. W., Klein, O. D., Spritz, R. A., Hennekam, R. C., Walsh, S., Shriver, M., Weinberg, S. M., Hallgrimsson, B., Hammond, P., Penington, A. J., Peeters, H. & Claes, P. D. (2021). Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism. SCIENTIFIC REPORTS, 11 (1), https://doi.org/10.1038/s41598-021-91465-zTest.; http://hdl.handle.net/11343/278462Test

الإتاحة: https://doi.org/10.1038/s41598-021-91465-zTest
http://hdl.handle.net/11343/278462Test

المؤلفون: Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, AJ, Gambello, MJ, Gener, B, Gerkes, E, Hitzert, MM, Hove, HB, Jansen, S, Jira, PE, Lachlan, K, Menke, LA, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, de Rossi, A, Sandoval, RL, Stumpel, C, Stuurman, Kyra, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C, Hennekam, RC

المصدر: Melis , D , Carvalho , D , Barbaro-Dieber , T , Espay , AJ , Gambello , MJ , Gener , B , Gerkes , E , Hitzert , MM , Hove , HB , Jansen , S , Jira , PE , Lachlan , K , Menke , LA , Narayanan , V , Ortiz , D , Overwater , E , Posmyk , R , Ramsey , K , de Rossi , A , Sandoval , RL , Stumpel , C , Stuurman , K , Cordeddu , V , Turnpenny , P , Strisciuglio , ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1111/cge.13749Test
https://pure.eur.nl/en/publications/01f2882c-2eae-4bde-8635-dcf69238b983Test
https://pure.eur.nl/ws/files/48328142/Repub_126470_O-A.pdfTest

المؤلفون: Polubothu, S, Abdin, D, Barysch, M, Thomas, A, Bulstrode, N, Evans, R, Solman, L, Obwegeser, J, Hennekam, RC, Weibel, L, Calder, A, Di Donato, N, Kinsler, VA

المصدر: British Journal of Dermatology , 183 (6) pp. 1128-1130. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10103753/1/bjd.19339.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10103753Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10103753/1/bjd.19339.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10103753Test/

المؤلفون: Fergelot, P, Van Belzen, M, Van Gils, J, Afenjar, A, Armour, CM, Arveiler, B, Beets, L, Burglen, L, Busa, T, Collet, M, Deforges, J, de Vries, BBA, Garrido, ED, Dorison, N, Dupont, J, Francannet, C, Garcia-Minaur, S, Vila, EG, Gebre-Medhin, S, Querol, BG, Genevieve, D, Gerard, M, Gervasini, CG, Goldenberg, A, Josifova, D, Lachlan, K, Maas, S, Maranda, B, Moilanen, JS, Nordgren, A, Parent, P, Rankin, J, Reardon, W, Rio, M, Roume, J, Shaw, A, Smigiel, R, Sojo, A, Solomon, B, Stembalska, A, Stumpel, C, Suarez, F, Terhal, P, Thomas, S, Touraine, R, Verloes, A, Vincent-Delorme, C, Wincent, J, Peters, DJM, Bartsch, O, Larizza, L, Lacombe, D, Hennekam, RC

المصدر: American journal of medical genetics. Part A. 170(12):3069-3082

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:134613528Test

المؤلفون: Postema, FAM, Bliek, J, van Noesel, CJM, van Zutven, Laura, Oosterwijk, JC, Hopman, SMJ, Merks, JHM, Hennekam, RC

المصدر: Postema , FAM , Bliek , J , van Noesel , CJM , van Zutven , L , Oosterwijk , JC , Hopman , SMJ , Merks , JHM & Hennekam , RC 2019 , ' Multiple tumors due to mosaic genome-wide paternal uniparental disomy ' , Pediatric Blood & Cancer , vol. 66 , no. 6 , e27715 . https://doi.org/10.1002/pbc.27715Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/pbc.27715Test
https://pure.eur.nl/en/publications/276aee84-2302-4545-9622-ed35b2035dfdTest
https://pure.eur.nl/ws/files/48194738/Repub_116914_O-A.pdfTest
http://hdl.handle.net/1765/116914Test

المؤلفون: Heinen, CA, de Vries, EMG, Alders, M, Bikker, H, Zwaveling-Soonawala, N, van den Akker, Erica, Bakker, B, Hoorweg-Nijman, G, Roelfsema, F, Hennekam, RC, Boelen, A, van Trotsenburg, ASP, Fliers, E

المصدر: Heinen , CA , de Vries , EMG , Alders , M , Bikker , H , Zwaveling-Soonawala , N , van den Akker , E , Bakker , B , Hoorweg-Nijman , G , Roelfsema , F , Hennekam , RC , Boelen , A , van Trotsenburg , ASP & Fliers , E 2018 , ' Mutations in IRS4 are associated with central hypothyroidism ' , Journal of Medical Genetics , vol. 55 , no. 10 , pp. 693-700 . https://doi.org/10.1136/jmedgenet-2017-105113Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105113Test
https://pure.eur.nl/en/publications/c9f34915-0951-401b-939d-19395b3315e4Test
https://pure.eur.nl/ws/files/47988744/repub-110285.pdfTest
http://hdl.handle.net/1765/110285Test

المؤلفون: Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC

العلاقة: https://ora.ox.ac.uk/objects/uuid:2f59879d-be55-4b8a-9811-10cc5f20288eTest; https://doi.org/10.1002/ajmg.a.38626Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38626Test
https://ora.ox.ac.uk/objects/uuid:2f59879d-be55-4b8a-9811-10cc5f20288eTest

المؤلفون: Basart, H, Suttie, M, Ibrahim, A, Ferretti, P, van der Horst, CMAM, Hennekam, RC, Hammond, P

المصدر: The Journal of Craniofacial Surgery , 29 (8) pp. 2106-2109. (2018)

مصطلحات موضوعية: 3D facial scanning, 3D photogrammetry, CT imaging, mandibular volume, micrognathia, robin sequence

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10063793/1/Ferretti_3d_2018.07.11%20Accepted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10063793Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10063793/1/Ferretti_3d_2018.07.11%20Accepted.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10063793Test/

المؤلفون: Solanky, N, Ishida, M, Aléman-Charlet, C, Abu-Amero, S, Alders, M, Alvizi, L, Baird, W, Demetriou, C, Henneman, P, James, C, Knegt, AC, Leon, LJ, Mannens, MMAM, Mul, AN, Nibbering, NA, Peskett, E, Rezwan, FI, Ris-Stalpers, C, van der Post, JAM, Kamp, GA, Plotz, FB, Wit, JM, Stanier, PM, Moore, GE, Hennekam, RC

المصدر: Journal of Clinical Endocrinology and Metabolism , 103 (3) pp. 917-925. (2018)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10041368/1/James_talman%20et%20al%20JCEM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10041368Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10041368/1/James_talman%20et%20al%20JCEM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10041368Test/