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Showing results 3 to 6 of 6 < previous

	Title	Author(s)	Issue Date	Views
	Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome Journal:American Journal of Medical Genetics Part A	Sheppard, SE Campbell, IM Harr, MH Gold, N Li, D Bjomsoon, HT Cohen, JS Fahrner, JA Fatemi, A Harris, JR Nowak, C Zadeh, N Zand, DJ Falk, MJ Hakonarson, H Zackai, EH Quintero-Rivera, F Stevens, CA Grand, K Au, M Graham, JM Sanchez-Lara, PA Campo, MD Jones, MC Abdul-Rahman, O Alkuraya, FS Bassetti, JA Bergstrom, K Bhoj, E Dugan, S Kaplan, JD Derar, N Gripp, KW Hauser, N Innes, AM Keena, B Kodra, N Miller, R Nelson, B Nowaczyk, MJ Rahbeeni, Z Ben-Shachar, S Shieh, JT Slavotinek, A Sobering, AK Abbott, MA Allain, DC Amlie-Wolf, L Au, PYB Bedoukian, E Beek, G Barry, J Berg, J Bernstein, JA Cytrynbaum, C Chung, BHY Donoghue, S Dorrani, N Eaton, A Flores-Daboub, JA Dubbs, H Felix, CA Fong, CT Fung, LF Gangaram, B Goldstein, A Greenberg, R Ha, TK Hersh, J Izumi, K Kallish, S Kravets, E Kwok, PY Jobling, RK Knight Johnson, AE Kushner, J Lee, BH Levin, B Lindstrom, K Manickam, K Mardach, R McCormick, E McLeod, DR Mentch, FD Minks, K Muraresku, C Nelson, SF Porazzi, P Pichurin, PN Powell-Hamilton, NN Powis, Z Ritter, A Rogers, C Rohena, L Ronspies, C Schroeder, A Stark, Z Starr, L Stoler, J Suwannarat, P Velinov, M Weksberg, R Wilnai, Y	2021	21
	Human chromosome 7: DNA sequence and biology Journal:Science	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, LC	2003	101
	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	49
	Recurrent de novo missense mutations in PP1CB cause a novel rasopathy closely resembling Noonan syndrome with loose anagen hair (Reviewer choice) Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Gripp, KW Aldinger, KA Bennett, J Baker, L Tusi, J Powell-Hamilton, N Stabley, D Sol-Church, K Timms, A Dobyns, WB de Man, A Larson, A Spruijt, L Koolen, D Stevens, SJC Stegmann, APA Nillesen, MW Norrhock, HV Belien, M Nellist, M Verheijen, F Wilems, PJ Chung, BHY Dubbs, H Bhoj, E Santani, A McDougall, C Zackai, EH Rinne, TK Wessels, MW	2016	56

Showing results 3 to 6 of 6 < previous