المؤلفون: Koczkowska, M. (Magdalena), Chen, Y. (Yunjia), Callens, T. (Tom), Gomes, A. (Alicia), Sharp, A. (Angela), Johnson, S. (Sherrell), Hsiao, M.-C. (Meng-Chang), Chen, Z. (Zhenbin), Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Immken, L. (LaDonna), Janssens, S. (Sandra), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Liebelt, J. (Jan), Martir-Negron, A. (Arelis), Mahoney, M.J. (Maurice J.), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Thornton, A.S. (Andrew), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie), Claes, K. (Kathleen), Martin, Y. (Yolanda), Korf, B. (Bruce), Legius, E. (Eric), Messiaen, L.M. (Ludwine)

المصدر: American Journal of Human Genetics vol. 102 no. 1, pp. 69-87

مصطلحات موضوعية: codons 844–848, CSRD, genotype-phenotype correlation, missense mutation, MPNST, neurofibromatosis type 1, NF1, plexiform neurofibroma, spinal NF

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/104143Test; urn:hdl:1765/104143

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://repub.eur.nl/pub/104143Test

المؤلفون: Hamby, Stephen E., Reviriego, P., Cooper, D. N., Upadhyaya, M., Chuzhanova, N.

مصطلحات موضوعية: NF1, Neurofibromatosis type 1, Gene mutation, Hi-C data, Histone H3K27ac, Enhancer

العلاقة: Human Genomics 2013 7:18; http://humgenomics.biomedcentral.com/articles/10.1186/1479-7364-7-18Test; http://hdl.handle.net/2381/36896Test

الإتاحة: https://doi.org/10.1186/1479-7364-7-18Test
http://hdl.handle.net/2381/36896Test

المؤلفون: Riva, P, Venturin, M, Gervasini, C, Orzan, F, Corrado, L, Colapietro, P, Friso, A, Tenconi, R, Upadhyaya, M, Larizza, L., BENTIVEGNA, ANGELA

المساهمون: Riva, P, Venturin, M, Gervasini, C, Orzan, F, Bentivegna, A, Corrado, L, Colapietro, P, Friso, A, Tenconi, R, Upadhyaya, M, Larizza, L

مصطلحات موضوعية: NF1, FISH analysis, nonhomologous end joining

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000185599700869; ispartofbook:Annual Meeting of the American-Society-of-Human-Genetics; Annual Meeting of the American-Society-of-Human-Genetics; volume:73; issue:5; firstpage:318; lastpage:318; numberofpages:1; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10281/49107Test

الإتاحة: http://hdl.handle.net/10281/49107Test

المؤلفون: Shen, M. H., Mantripragada, K., Dumanski, Jan P., Frayling, I., Upadhyaya, M.

المصدر: Clinical Genetics. 72(3):238-244

مصطلحات موضوعية: Array CGH, DNA, Microarray, Molecular diagnosis, Mutation detection, NF1, MEDICINE, MEDICIN

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-16738Test