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1دورية أكاديمية
المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4Test SGUL Authors: Mansour, Sahar
الإتاحة: https://doi.org/10.1038/s41431-021-01015-4Test
https://openaccess.sgul.ac.uk/id/eprint/113939Test/
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest -
2دورية أكاديمية
المؤلفون: Pacot, L., Vidaud, D., Sabbagh, A., Laurendeau, I., Briand-Suleau, A., Coustier, A., Maillard, T., Barbance, C., Morice-Picard, F., Sigaudy, S., Glazunova, O. O., Damaj, L., Layet, V., Quelin, C., Gilbert-Dussardier, B., Audic, F., Dollfus, H., Guerrot, A. M., Lespinasse, J., Julia, S., Vantyghem, Marie-Christine, Drouard, M., Lackmy, M., Leheup, B., Alembik, Y., Lemaire, A., Nitschke, P., Petit, Florence, Dieux, Anne, Mutez, Eugenie, Taieb, A., Fradin, M., Capri, Y., Nasser, H., Ruaud, L., Dauriat, B., Bourthoumieu, S., Genevieve, D., Audebert-Bellanger, S., Nizon, M., Stoeva, R., Hickman, G., Nicolas, G., Mazereeuw-Hautier, J., Jannic, A., Ferkal, S., Parfait, B., Vidaud, M., Wolkenstein, P., Pasmant, E.
المساهمون: Université de Lille, CHU Lille, Recherche translationnelle sur le diabète (RTD) - U1190, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Lille Neurosciences & Cognition (LilNCog) - U 1172
مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 deletion, genotype-phenotype correlation, neurofibromas, NFs, malignant peripheral nerve sheath tumors, MPNSTs, tumor predisposition, learning disabilities, dysmorphism, skeletal abnormalities, cardiovascular abnormalities
العلاقة: Cancers; http://hdl.handle.net/20.500.12210/84173Test
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3دورية أكاديمية
المؤلفون: Sabbagh, A., Pacot, L., Parfait, B., Boland-Auge, A., Bacq-Daian, D., Laurendeau, I., Ferkal, S., Briand, A., Allanore, L., Deleuze, J.F., Vidaud, M., Vidaud, D., Pasmant, E., Wolkenstein, P.
المصدر: Annales de Dermatologie et de Vénéréologie ; volume 146, issue 12, page A111-A112 ; ISSN 0151-9638
مصطلحات موضوعية: Dermatology
الإتاحة: https://doi.org/10.1016/j.annder.2019.09.121Test
https://api.elsevier.com/content/article/PII:S0151963819304351?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0151963819304351?httpAccept=text/plainTest