Results 1 to 4 of 4
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TypeTitleAuthor(s)YearViews
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
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, N2009172
 
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
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
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, H2008129
 
Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
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, B2008226
 
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Journal:
Cell
Publisher:
Cell Press. The Journal's web site is located at http://www.elsevier.com/locate/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, HG1995161
 
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