المؤلفون: Steinfeld, H. (Hallie), Cho, M.T. (Megan T.), Retterer, K. (Kyle), Person, R. (Rick), Schaefer, G.B. (G. Bradley), Danylchuk, N. (Noelle), Malik, S. (Saleem), Wechsler, S.B. (Stephanie Burns), Wheeler, P.G. (Patricia G.), van Gassen, K.L.I. (Koen L.I.), Terhal, P. (Paulien), Verhoeven, V.J.M. (Virginie), Slegtenhorst, M.A. (Marjon) van, Monaghan, K.G. (Kristin G.), Henderson, L.B. (Lindsay B.), Chung, W. (Wendy)

المصدر: Neurogenetics vol. 17 no. 3, pp. 159-164

مصطلحات موضوعية: De novo, Developmental Delay, HIVEP2, Intellectual Disability, Whole-exome sequencing

Relation: http://repub.eur.nl/pub/90974; urn:hdl:1765/90974

الاتاحة: http://repub.eur.nl/pub/90974
https://doi.org/10.1007/s10048-016-0479-z

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