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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Nisselle, A, Janinski, M, Martyn, M, McClaren, B, Kaunein, N, Maguire, J, Riggs, ER, Barlow-Stewart, K, Belcher, A, Bernat, JA, Best, S, Bishop, M, Carroll, JC, Cornel, M, Dissanayake, VHW, Dodds, A, Dunlop, K, Garg, G, Gear, R, Graves, D, Knight, K, Korf, B, Kumar, D, Laurino, M, Ma, A, Mallett, A, McCarthy, M, McEwen, A, Mulder, N, Patel, C, Quinlan, C, Reed, K, Sinnerbrink, I, Slavotinek, A, Suppiah, V, Terrill, B, Tobias, ES, Tonkin, E, Trumble, S, Wessels, TM, Metcalfe, S, Jordan, H, Gaff, C
المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 23, 7, 1356-1365
مصطلحات موضوعية: Genetics, Biotechnology, Mind and Body, Pediatric, Cancer, Health Services, Human Genome, Clinical Research, Generic health relevance, 4 Quality Education, Consensus, Delphi Technique, Genomics, Humans, Research Report, Stakeholder Participation, Reporting Item Standards for Education and its Evaluation in Genomics Expert Group, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_83501Test; https://unsworks.unsw.edu.au/bitstreams/0937bab7-b5ec-4475-a84b-70139f26ec5d/downloadTest; https://doi.org/10.1038/s41436-021-01140-xTest
الإتاحة: https://doi.org/10.1038/s41436-021-01140-xTest
http://hdl.handle.net/1959.4/unsworks_83501Test
https://unsworks.unsw.edu.au/bitstreams/0937bab7-b5ec-4475-a84b-70139f26ec5d/downloadTest -
3دورية أكاديمية
المؤلفون: Northrup, H, Aronow, ME, Bebin, EM, Bissler, J, Darling, TN, de Vries, PJ, Frost, MD, Fuchs, Z, Gosnell, ES, Gupta, N, Jansen, AC, Jóźwiak, S, Kingswood, JC, Knilans, TK, McCormack, FX, Pounders, A, Roberds, SL, Rodriguez-Buritica, DF, Roth, J, Sampson, JR, Sparagana, S, Thiele, EA, Weiner, HL, Wheless, JW, Towbin, AJ, Krueger, DA, Annear, NMP, Bartels, U, Berhouma, M, Bissler, JJ, Budde, K, Byars, A, Chugani, H, Cowen, EW, Crino, PB, Curatolo, P, de Vries, P, Dilling, DF, Dunn, DW, Ekong, R, Ess, KC, Franz, DN, Frost, M, Fuchs, ZDB, Guay-Woodford, L, Haddad, L, Halbert, A, Hebert, AA, Henske, EP, Holmes, GL, Hook, D, Hulbert, J, Jansen, A, Johnson, SR, King, B, Koenig, MK, Korf, B, Kwiatkowski, DJ, Moss, J, Mowat, D, Mowrey, K, Nabbout, R, Nellist, MD, O'Callaghan, F, Patel, U, Roach, ES, Romp, R, Rozenberg, M, Ruoss, SJ, Sahin, M, Sampson, J, Samuels, JA, Sauter, M, Smith, CA, Soltani, K, Srivastava, S, Stuart, C, Teng, JMC, Trout, A, van Eeghen, A, Vanclooster, S, Wang, HZ, Wataya-Kaneda, M, Witman, P, Wright, T, Wu, JY, Young, L
المصدر: Pediatric Neurology , 123 pp. 50-66. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133454/1/1-s2.0-S088789942100151X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133454Test/
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4دورية أكاديمية
المؤلفون: Payne, JM, Hearps, SJC, Walsh, KS, Paltin, I, Barton, B, Ullrich, NJ, Haebich, KM, Coghill, D, Gioia, GA, Cantor, A, Cutter, G, Tonsgard, JH, Viskochil, D, Rey-Casserly, C, Schorry, EK, Ackerson, JD, Klesse, L, Fisher, MJ, Gutmann, DH, Rosser, T, Packer, RJ, Korf, B, Acosta, MT, North, KN
العلاقة: Payne, J. M., Hearps, S. J. C., Walsh, K. S., Paltin, I., Barton, B., Ullrich, N. J., Haebich, K. M., Coghill, D., Gioia, G. A., Cantor, A., Cutter, G., Tonsgard, J. H., Viskochil, D., Rey-Casserly, C., Schorry, E. K., Ackerson, J. D., Klesse, L., Fisher, M. J., Gutmann, D. H. ,. North, K. N. (2019). Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 6 (12), pp.2555-2565. https://doi.org/10.1002/acn3.50952Test.; http://hdl.handle.net/11343/245339Test
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5
المؤلفون: Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., Peltonen, Sirkku, 1964, Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Huson, S. M., Evans, D. G., Plotkin, S. R.
المصدر: Genetics in Medicine. 23:1506-1513
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, choroidal abnormalities, sequence variants, mutation analysis, gene, mosaicism, identification, reveals, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/305494Test
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6دورية أكاديمية
المؤلفون: Plotkin S. R., Messiaen L., Legius E., Pancza P., Avery R. A., Blakeley J. O., Babovic-Vuksanovic D., Ferner R., Fisher M. J., Friedman J. M., Giovannini M., Gutmann D. H., Hanemann C. O., Kalamarides M., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., MacCollin M., Papi L., Rauen K. A., Riccardi V., Schorry E., Smith M. J., Stemmer-Rachamimov A., Stevenson D. A., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Gomes A., Halliday D., Helen Hanson Arvid Heiberg C. H., Joly P., Jordan J. T., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., Mallucci C., Merker V. L., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Wolkenstein P., Evans D. G.
المساهمون: Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Maccollin, M., Papi, L., Rauen, K. A., Riccardi, V., Schorry, E., Smith, M. J., Stemmer-Rachamimov, A., Stevenson, D. A., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Gomes, A., Halliday, D., Helen Hanson Arvid Heiberg, C. H., Joly, P., Jordan, J. T., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Mallucci, C., Merker, V. L., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Wolkenstein, P., Evans, D. G.
مصطلحات موضوعية: NF2, Neurofibromatosi, SMARCB1, Schwannomatosi, lztr1
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35674741; info:eu-repo/semantics/altIdentifier/wos/WOS:000855692500017; volume:24; issue:9; firstpage:1967; lastpage:1977; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3473739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://hdl.handle.net/11577/3473739Test
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest -
7دورية أكاديمية
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
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8دورية أكاديمية
المؤلفون: Korf, B.
المصدر: eISSN: 2194-8798
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.5194/gh-60-127-2005Test
https://gh.copernicus.org/articles/60/127/2005Test/ -
9دورية أكاديمية
المؤلفون: Korf, B.
المصدر: eISSN: 2194-8798
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.5194/gh-64-98-2009Test
https://gh.copernicus.org/articles/64/98/2009Test/ -
10دورية أكاديمية
المؤلفون: Korf, B., Ossenbrügge, J.
المصدر: eISSN: 2194-8798
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.5194/gh-65-167-2010Test
https://gh.copernicus.org/articles/65/167/2010Test/
النص الكامل