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 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., Cunningham M., D'Agostino M. D., Delatycki M. B., Digilio M. C., Dosa L., Esposito S., Fox S., Freckmann M. -L., Fauth C., Giugliano T., Giustini S., Goetsch A., Goldberg Y., Greenwood R. S., Griffis C., Gripp K. W., Gupta P., Haan E., Hachen R. K., Haygarth T. L., Hernandez-Chico C., Hodge K., Hopkin R. J., Hudgins L., Janssens S., Keller K., Kelly-Mancuso G., Kochhar A., Korf B. R., Lewis A. M., Liebelt J., Lichty A., Listernick R. H., Lyons M. J., Maystadt I., Martinez Ojeda M., McDougall C., McGregor L. K., Melis D., Mendelsohn N., Nowaczyk M. J. M., Ortenberg J., Panzer K., Pappas J. G., Pierpont M. E., Piluso G., Pinna V., Pivnick E. K., Pond D. A., Powell C. M., Rogers C., Ruhrman Shahar N., Rutledge S. L., Saletti V., Sandaradura S. A., Santoro C., Schatz U. A., Schreiber A., Scott D. A., Sellars E. A., Sheffer R., Siqveland E., Slopis J. M., Smith R., Spalice A., Stockton D. W., Streff H., Theos A., Tomlinson G. E., Tran G., Trapane P. L., Trevisson E., Ullrich N. J., Van den Ende J., Schrier Vergano S. A., Wallace S. E., Wangler M. F., Weaver D. D., Yohay K. H., Zackai E., Zonana J., Zurcher V., Claes K. B. M., Eoli M., Martin Y., Wimmer K., De Luca A., Legius E., Messiaen L. M.

المساهمون: 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., Cunningham, M., D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. -L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernandez-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., Mcdougall, C., Mcgregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J.

مصطلحات موضوعية: genotype–phenotype correlation, NF1, p.Arg1276, p.Lys1423, p.Met1149

Relation: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299; lastpage:315; numberofpages:17; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3324233; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004

الاتاحة: http://hdl.handle.net/11577/3324233
https://doi.org/10.1002/humu.23929
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004
https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23929

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