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	Title	Author(s)	Issue Date	Views
	A dyadic approach to the delineation of diagnostic entities in clinical genomics Journal:The American Journal of Human Genetics	Biesecker, LG Adam, MP Alkuraya, FS Amemiya, AR Barnshad, MJ Beck, AE Bennett, JT Bird, LM Carey, JC Chung, B Clark, RD Cox, TC Curry, C Dinulos, MBP Dobyns, WB Glampietro, PF Girisha, KM Glass, IA Graham, JM Gripp, KW Haldeman-Englert, CR Hall, BD Innes, AM Kalish, JM Keppler-Noreuil, KM Kosaki, K Kozel, BA Mirzaa, GM Mulvihill, JJ Nowaczyk, MJM Pagon, RA Retterer, K Rope, AF Sanchez-Lara, PA Stevens, LH Shieh, JT Slavotinek, AM Sobering, AK Stevens, CA Stevension, DA Tan, TY Tan, WH Tsai, AC Weaver, DD Williams, MS Zackai, E Zarate, YA	2021	56
	First detection of NH 3 (1 0 → 0 0) from a low mass cloud core. On the low ammonia abundance of the ρ Oph A core Journal:Astronomy and Astrophysics	Liseau, R Larsson, B Brandeker, A Bergman, P Bernath, P Black, JH Booth, R Buat, V Curry, C Encrenaz, P Falgarone, E Feldman, P Fich, M Florén, H Frisk, U Gerin, M Gregersen, E Harju, J Hasegawa, T Hjalmarson, Å Johansson, L Kwok, S Lecacheux, A Liljeström, T Mattila, K Mitchell, G Nordh, L Olberg, M Olofsson, G Pagani, L Plume, R Ristorcelli, I Sandqvist, Aa Schéele, FV Serra, G Tothill, N Volk, K Wilson, C	2003	48
	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
	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Journal:Neuron	Lennox, AL Hoye, ML Jiang, R Johnson-Kerner, BL Suit, LA Venkataramanan, S Sheehan, CJ Alsina, FC Fregeau, B Aldinger, KA Moey, C Lobach, I Afenjar, A Babovic-Vuksanovic, D Bezieau, S Blackburn, PR Bunt, J Burglen, L Campeau, PM Charles, P Chung, BHY Cogne, B Curry, C D'Agostino, MD Di Donato, N Faivre, L Heron, D Innes, AM Isidor, B Keren, B Kimball, A Klee, EW Kuentz, P Kury, S Martin-Coignard, D Mirzaa, G Mignot, C Myake, N Matsumoto, N Fujita, A Nava, C Nizon, M Rodriguez, D Blok, LS Thauvin-Robinet, C Thevenon, J Vincent, M Ziegler, A Dobyns, W Richards, LJ Barkovich, AJ Floor, SN Silver, DL Sherr, EH	2020	43

Showing results 1 to 4 of 4