المؤلفون: Koczkowska, M. (Magdalena), Callens, T. (Tom), Gomes, A. (Alicia), Sharp, A. (Angela), Chen, Y. (Yunjia), Hicks, A.D. (Alesha D.), Aylsworth, A.S. (Arthur S.), Azizi, A.A. (Amedeo A.), Basel, D.G. (Donald G.), Bellus, G. (Gary), Bird, L.M. (Lynne), Blazo, M. (Maria), Burke, L.W. (Leah W.), Cannon, A. (Ashley), Collins, F. (Felicity), DeFilippo, C. (Colette), Denayer, E. (Ellen), Digilio, M.C. (Maria), Dills, S.K. (Shelley K.), Dosa, L. (Laura), Greenwood, R.S. (Robert S.), Griffis, C. (Cristin), Gupta, P. (Punita), Hachen, R.K. (Rachel K.), Hernández-Chico, C. (Concepción), Janssens, S. (Sandra), Jones, K.J. (Kristi), Jordan, J.T. (Justin T.), Kannu, P. (Peter), Korf, B. (Bruce), Lewis, A.M. (Andrea M.), Listernick, R.H. (Robert H.), Lonardo, F. (Fortunato), Mahoney, M.J. (Maurice J.), Ojeda, M.M. (Mayra Martinez), McDougall, C. (Carey), Mendelsohn, N.J., Miller, D.T. (David T.), Mori, M. (Mari), Oostenbrink, R. (Rianne), Perreault, S. (Sebastien), Pierpont, M.E. (Mary Ella), Piscopo, C. (Carmelo), Pond, D.A. (Dinel A.), Randolph, L.M. (Linda M.), Rauen, K.A. (Katherine), Rednam, S. (Surya), Rutledge, S.L. (S. Lane), Saletti, V. (Veronica), Schaefer, G.B. (G. Bradley), Schorry, E.K. (Elizabeth K.), Scott, D.A., Shugar, A. (Andrea), Siqveland, E. (Elizabeth), Starr, L. (Lois), Syed, A. (Ashraf), Trapane, P.L. (Pamela L.), Ullrich, N.J. (Nicole J.), Wakefield, E.G. (Emily G.), Walsh, L.E. (Laurence E.), Wangler, M.F. (Michael F.), Zackai, E. (Elaine), Claes, K. (Kathleen), McDonald, M.T. (Marie), Wimmer, K. (Katharina), Thornton, A.S. (Andrew), De Luca, A. (Alessandro), Martin, Y. (Yolanda), Legius, E. (Eric), Messiaen, L.M. (Ludwine)

المصدر: Genetics in Medicine

مصطلحات موضوعية: genotype–phenotype correlation, learning difficulties, neurofibroma, NF1, p.Met992del

وصف الملف: application/pdf

Relation: https://repub.eur.nl/pub/110371; urn:hdl:1765/110371

الاتاحة: https://repub.eur.nl/pub/110371
https://doi.org/10.1038/s41436-018-0269-0