المؤلفون: Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM

Relation: Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortes, F. M. ,. Messiaen, L. M. (2019). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. HUMAN MUTATION, 41 (1), pp.299-315. https://doi.org/10.1002/humu.23929.; http://hdl.handle.net/11343/304382

الاتاحة: http://hdl.handle.net/11343/304382

المؤلفون: Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/304382