Results 1 to 6 of 6
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TypeTitleAuthor(s)YearViews
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, B2008227
 
Human chromosome 7: DNA sequence and biology
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; ParkerKatiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HHQ; Pelicci, PG; LoCoco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GAP; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJT; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC2003763
 
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Osborne, LR; Li, M; Pober, B; Chitayat, D; Bodurtha, J; Mandel, A; Costa, T; Grebe, T; Cox, S; Tsui, LC; Scherer, SW20011,836
 
Tourette syndrome in two brothers with balanced and unbalanced chromosome 12 rearrangements
Publisher:
University of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Yu, J; Guan, X; Pober, B; Yang-Feng, T1999340
 
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome: Letters to the editor
Publisher:
University of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Osborne, LR; Soder, S; Shi, XM; Pober, B; Costa, T; Scherer, SW; Tsui, L-C1997334
 
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Osborne, LR; Martindale, D; Scherer, SW; Shi, XM; Huizenga, J; Heng, HHQ; Costa, T; Pober, B; Lew, L; Brinkman, J; Rommens, J; Koop, B; Tsui, LC1996336
 
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