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 and Genomics, Medicinsk genetik och genomik, choroidal abnormalities, sequence variants, mutation analysis, gene, mosaicism, identification, reveals, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/305494

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

Relation: 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/11577/3473739; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihub

الاتاحة: https://hdl.handle.net/11577/3473739
https://doi.org/10.1016/j.gim.2022.05.007
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihub

المؤلفون: Spurlock, G, Bennett, E, Chuzhanova, N, Thomas, N, Jim, H-Ping, Side, L, Davies, S, Haan, E, Kerr, B, Huson, S M, Upadhyaya, M

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/46/7/431; http://dx.doi.org/10.1136/jmg.2008.065474

الاتاحة: http://jmg.bmj.com/cgi/content/short/46/7/431
https://doi.org/10.1136/jmg.2008.065474

المؤلفون: Sharif, S, Moran, A, Huson, S M, Iddenden, R, Shenton, A, Howard, E, Evans, D G R

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/8/481; http://dx.doi.org/10.1136/jmg.2007.049346

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/8/481
https://doi.org/10.1136/jmg.2007.049346

المؤلفون: Evans, D Gareth R, Ramsden, R T, Shenton, A, Gokhale, C, Bowers, N L, Huson, S M, Pichert, G, Wallace, A

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/7/424; http://dx.doi.org/10.1136/jmg.2006.047753

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/7/424
https://doi.org/10.1136/jmg.2006.047753

المؤلفون: Ferner, R. E, Huson, S. M, Thomas, N., Moss, C., Willshaw, H., Evans, D G., Upadhyaya, M., Towers, R., Gleeson, M., Steiger, C., Kirby, A.

المصدر: Journal of Medical Genetics ; volume 44, issue 2, page 81-88 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2006.045906
https://syndication.highwire.org/content/doi/10.1136/jmg.2006.045906

المؤلفون: Huson, S. M., Staab, T., Pereira, M., Ward, H., Paredes, Roberto, Evans, D. G., Baumhoer, D., O'Sullivan, J., Cheesman, E., Schindler, D., Meyer, Stefan

المساهمون: Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.

Relation: https://dx.doi.org/10.1007/s10689-020-00221-1; Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, et al. Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome. Fam Cancer. 2020.; http://hdl.handle.net/10541/623620; Familial Cancer

الاتاحة: http://hdl.handle.net/10541/623620
https://doi.org/10.1007/s10689-020-00221-1

المؤلفون: Huson, S M

المصدر: Journal of the Royal Society of Medicine ; volume 97, issue 8, page 405-405 ; ISSN 0141-0768 1758-1095

الاتاحة: http://dx.doi.org/10.1177/014107680409700815
http://journals.sagepub.com/doi/pdf/10.1177/014107680409700815

المؤلفون: Castle, B, Baser, M E, Huson, S M, Cooper, D N, Upadhyaya, M

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/40/10/e109; http://dx.doi.org/10.1136/jmg.40.10.e109

الاتاحة: http://jmg.bmj.com/cgi/content/short/40/10/e109
https://doi.org/10.1136/jmg.40.10.e109

المؤلفون: Faravelli, F, Upadhyaya, M, Osborn, M, Huson, S M, Hayward, R, Winter, R

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/36/12/893; http://dx.doi.org/10.1136/jmg.36.12.893

الاتاحة: http://jmg.bmj.com/cgi/content/short/36/12/893
https://doi.org/10.1136/jmg.36.12.893

المؤلفون: Rose, P., Humm, E., Hey, K., Jones, L., Huson, S. M

المصدر: Family Practice ; volume 16, issue 1, page 78-83 ; ISSN 0263-2136 1460-2229

الاتاحة: http://dx.doi.org/10.1093/fampra/16.1.78
http://academic.oup.com/fampra/article-pdf/16/1/78/9794414/160078.pdf

المؤلفون: Rauen, KA, Alsaegh, A, Ben-Shachar, S, Berman, Y, Blakeley, J, Cordeiro, I, Elgersma, Ype, Evans, DG, Fisher, MJ, Frayling, IM, George, J, Huson, S M, Kerr, B, Khire, U, Korf, B, Legius, E, Messiaen, L, van Minkelen, Rick, Nampoothiri, S, Ngeow, J, Parada, LF, Phadke, S, Pillai, A, Plotkin, SR, Puri, R, Raji, A, Ramesh, V, Ratner, N, Shankar, SP, Sharda, S, Tambe, A, Vikkula, M, Widemann, BC, Wolkenstein, P, Upadhyaya, M

المصدر: Rauen , KA , Alsaegh , A , Ben-Shachar , S , Berman , Y , Blakeley , J , Cordeiro , I , Elgersma , Y , Evans , DG , Fisher , MJ , Frayling , IM , George , J , Huson , S M , Kerr , B , Khire , U , Korf , B , Legius , E , Messiaen , L , van Minkelen , R , Nampoothiri , S , Ngeow , J , Parada , LF , Phadke , S , Pillai , A , Plotkin , SR , Puri ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/adc2f8ac-7df6-4ba6-85e8-e22732e33efd
https://doi.org/10.1002/ajmg.a.61125
http://hdl.handle.net/1765/116994

المؤلفون: Slavotinek, A, Maher, E, Gregory, P, Rowlandson, P, Huson, S M

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/34/10/857; http://dx.doi.org/10.1136/jmg.34.10.857

الاتاحة: http://jmg.bmj.com/cgi/content/short/34/10/857
https://doi.org/10.1136/jmg.34.10.857

المؤلفون: Slavotinek, A M, Huson, S M, Fitchett, M

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/34/5/430; http://dx.doi.org/10.1136/jmg.34.5.430

الاتاحة: http://jmg.bmj.com/cgi/content/short/34/5/430
https://doi.org/10.1136/jmg.34.5.430

المؤلفون: Evans, D G, Mason, S, Huson, S M, Ponder, M, Harding, A E, Strachan, T

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 62, issue 4, page 361-366 ; ISSN 0022-3050

الاتاحة: http://dx.doi.org/10.1136/jnnp.62.4.361
https://syndication.highwire.org/content/doi/10.1136/jnnp.62.4.361

المؤلفون: Slaney, S F, Wilkie, A O, Hirst, M C, Charlton, R, McKinley, M, Pointon, J, Christodoulou, Z, Huson, S M, Davies, K E

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/72/1/33; http://dx.doi.org/10.1136/adc.72.1.33

الاتاحة: http://adc.bmj.com/cgi/content/short/72/1/33
https://doi.org/10.1136/adc.72.1.33

المؤلفون: Upadhyaya, M, Maynard, J, Osborn, M, Huson, S M, Ponder, M, Ponder, B A, Harper, P S

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/32/9/706; http://dx.doi.org/10.1136/jmg.32.9.706

الاتاحة: http://jmg.bmj.com/cgi/content/short/32/9/706
https://doi.org/10.1136/jmg.32.9.706

المؤلفون: Barnes, P R, Hilton-Jones, D, Norbury, G, Roberts, A, Huson, S M

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/57/5/662; http://dx.doi.org/10.1136/jnnp.57.5.662

الاتاحة: http://jnnp.bmj.com/cgi/content/short/57/5/662
https://doi.org/10.1136/jnnp.57.5.662

المؤلفون: Fewtrell, M S, Tam, P K, Thomson, A H, Fitchett, M, Currie, J, Huson, S M, Mulligan, L M

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/31/4/325; http://dx.doi.org/10.1136/jmg.31.4.325

الاتاحة: http://jmg.bmj.com/cgi/content/short/31/4/325
https://doi.org/10.1136/jmg.31.4.325

المؤلفون: Huson, S. M

المصدر: Journal of Medical Genetics ; volume 30, issue 4, page 351-351 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.4.351
https://syndication.highwire.org/content/doi/10.1136/jmg.30.4.351