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Showing results 1 to 8 of 8

	Title	Author(s)	Issue Date	Views
	A novel cause of Lynch syndrome: heritable somatic methylation of MSH2 due to deletion of the 30 exons of the upstream gene Proceeding/Conference:Familial Cancer	Ligtenberg, MJL Kuiper, RP Chan, TL Goossens, M Hebeda, KM Voorendt, M Bodmer, D Hoenselaar, E Hendriks-Cornelissen, SJB Brunner, HG Geurts van Kessel, A van Krieken, JHJM Leung, SY Hoogerbrugge, N	2010	131
	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Journal:Cell	Vikkula, M Mariman, ECM Lui, VCH Zhidkova, NI Tiller, GE Goldring, MB Van Beersum, SEC De Waal Malefijt, MC Van den Hoogen, FHJ Ropers, HH Mayne, R Cheah, KSE Olsen, BR Warman, ML Brunner, HG	1995	157
	Clinical delineation of the PACS1-related syndrome: report on 19 patients Journal:American Journal of Medical Genetics	Janeke, HM Hoeijmakers, S Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, JA Glass, J Chitayat, D Burrow, TA Husami, A Collins, K Wusik, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernandez-Jaen, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, M van Karnebeek, CDM Stavropoulos, DJ Marshall, CR Gregor, A Zweler, C Hopkin, RJ Chu, WY Chung, BHY de Vries, BBA Devriendt, K DDD, STUDY Huries, ME Brunner, HG	2016	71
	Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 Proceeding/Conference:European Human Genetics Conference 2017	Schuurs-Hoeijmakers, JHM Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, A Glass, J Chitayat, D Burrow, TA Husami, A Collins, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernández-Jaén, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, A van Karnebeek, CD Stavropoulos, DJ Marshall, CR Merico, D Gregor, A Zweier, C Hopkin, RJ Chu, YW Chung, BHY de Vries, BB Devriendt, K Hurles, ME Brunner, HG	2017	42
	Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 Journal:Nature Genetics	Ligtenberg, MJL Kuiper, RP Chan, TL Goossens, M Hebeda, KM Voorendt, M Lee, TYH Bodmer, D Hoenselaar, E HendriksCornelissen, SJB Tsui, WY Kong, CK Brunner, HG Van Kessel, AG Yuen, ST Van Krieken, JHJM Leung, SY Hoogerbrugge, N	2009	198
	Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients Journal:Human Mutation	Prattichizzo, C Macca, M Novelli, V Giorgio, G Barra, A Franco, B Abdulla, F Abramowicz, M Amy, S Schafer, I Bankier, A White, S Barcina, MG Bartoshesky, LE Jenny, K Beemer, FA Benke, P Betz, RC Bianchini, G Garavelli, L Bigoni, S Bird, L Chibuk, J MasserFrye, D Brunetti, N Scarcella, A Brunner, HG Burn, J Carmi, R Castellan, C Castelluccio, P Castle, B Chiong, MA Cutiongco, EM Collins, F Couchon, E Curry, A Pastore, M Curry, C Swenerton, A Treisman, T Dean, J Devriendt, K Matthijs, G Dunlap, JW Shashi, V Elcioglu, N Farndon, P Ferrero, GB Ferrier, R Foulds, N Friedman, JM Gal, A Orth, U Gardner, M Gerola, O GillessenKaesbach, G Giuliano, F TurcCarel, C Gödde, E Graber, V Graham, GE Gurrieri, F Harbour, L Henderson, A Jones, E Heran, H Homfray, T Taylor, R Iwarsson, E Jensen, P JezelaStanek, A Joss, S Taylor, G Keeling, SL Klatt, R Teebi, A KlehrMartinelli, M Kotzot, D Lees, M Loughlin, S Lhotta, K Macdonald, F Mari, F Renieri, A Marlin, S Mcgaughran, J Mckenzie, F Mcleod, DR Megarbane, A Mota, CR Mucke, J Tzschach, A Obersztyn, E Okhowat, R Shinzel, A Pfau, R Pober, B Raymond, FL Reich, E Reimschisel, T Robertson, J Roggenbuck, J Sabato, A Sanchez Del Pozo, J SchellApacik, C Schwaab, E Selicorni, A Sell, S Smithson, S StrayPedersen, A Tan, T Thiese, H Tol, J Toprak, O Trump, D Whittaker, J Williams, D Zelante, L Zoll, B	2008	78
	A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes Journal:Human Molecular Genetics	Rinne, T Clements, SE Lamme, E Duijf, PHG Bolat, E Meijer, R Scheffer, H Rosser, E Tan, TY Mcgrath, JA Schalkwijk, J Brunner, HG Zhou, H Van Bokhoven, H	2008	61
	Recurrent mutations in the basic domain of TWIST2 cause Ablepharon Macrostomia syndrome and Barber-Say syndrome Journal:American Journal of Human Genetics	Marchegiani, S Davis, T Tessadori, F van Haaften, G Brancati, F Hoischen, H Huang, H Valkanas, E Pusey, B Schanze, D Venselaaar, H Vulto-van Silfhourt, AT Wolfe, LA Tifft, CJ Zerfas, PM Zambruno, G Kariminejad, A Kermani, FS Lee, J Tsokos, MG Lee, CCR Ferraz, V da Silva, EM Stevens, CA Roche, N Bartsch, O Farndon, P Bermejo-Sanchez, E Brooks, BP Maduro, V Dallapiccola, B Ramos, FJ Chung, BHY Caignec, CL Martins, F Jacyk, WK Mazzanti, L Brunner, HG Bakkers, J Lin, S Malicdan, MCV Boerkoel, CF Gahl, WA de Vries, BBA van Haelst, MM Zenker, M Markello, T	2015	55

Showing results 1 to 8 of 8