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Showing results 1 to 4 of 4

	Title	Author(s)	Issue Date
	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
	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
	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020
	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

Showing results 1 to 4 of 4