المؤلفون: Ottenhoff, M.J. (Myrthe), Rietman, A.B. (André), Mous, S.E. (Sabine), Plasschaert, E. (Ellen), Gawehns, D. (Daniela), Brems, H. (Hilde), Oostenbrink, R. (Rianne), Wit, M.C.Y. (Marie Claire) de, Nijs, P.F.A. (Pieter) de, Legerstee, J.S. (Jeroen), Dieleman, G.C. (Gwen), Hoopen, L.W. (Leontine) ten, Thornton, A.S. (Andrew), Nellist, M.D. (Mark), Schorry, E. (Elizabeth), Legius, E. (Eric), Moll, H.A. (Henriëtte), Elgersma, Y. (Ype)

المصدر: Genetics in Medicine

مصطلحات موضوعية: genotype–phenotype association, intelligence quotient, neurofibromatosis type 1, phenotypic variability, twin study

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/124697Test; urn:hdl:1765/124697

الإتاحة: https://doi.org/10.1038/s41436-020-0752-2Test
http://repub.eur.nl/pub/124697Test

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

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

المؤلفون: Abrams, A. J., Hufnagel, R. B., Rebelo, A., ZANNA, CLAUDIA, Patel, N., Gonzalez, M. A., Campeanu, I. J., Griffin, L. B., Groenewald, S., Strickland, A. V., Tao, F., Speziani, F., Abreu, L., Schule, R., LA MORGIA, CHIARA, MARESCA, ALESSANDRA, LIGUORI, ROCCO, LODI, RAFFAELE, Ahmed, Z. M., Sund, K. L., Wang, X., Krueger, L. A., Peng, Y., Prada, C. E., Prows, C. A., Schorry, E. K., Antonellis, A., Zimmerman, H. H., Abdul Rahman, O. A., Yang, Y., Downes, S. M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A. H., CARELLI, VALERIO, Huang, T., Zuchner, S., Dallman, J. E.

المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.

مصطلحات موضوعية: Dominant optic atrophy, DOA, xonal peripheral neuropathy, Charcot-Marie-Tooth type 2, CMT2, hereditary neurodegenerative disorder

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26168012; info:eu-repo/semantics/altIdentifier/wos/WOS:000358674100019; volume:47; issue:8; firstpage:926; lastpage:932; numberofpages:7; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/266608; http://hdl.handle.net/11585/515677Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84938271321; https://www-nature-com.ezproxy.unibo.it/articles/ng.3354Test

الإتاحة: https://doi.org/10.1038/ng.3354Test
http://hdl.handle.net/11585/515677Test
https://www-nature-com.ezproxy.unibo.it/articles/ng.3354Test

المؤلفون: Weiss, B., Widemann, B. C., Wolters, P., Dombi, E., Vinks, A., Cantor, A., Perentesis, J., Schorry, E., Ullrich, N., Gutmann, D. H., Tonsgard, J., Viskochil, D., Korf, B., Packer, R. J., Fisher, M. J.

المصدر: Neuro-Oncology ; volume 17, issue 4, page 596-603 ; ISSN 1522-8517 1523-5866

الإتاحة: https://doi.org/10.1093/neuonc/nou235Test
http://academic.oup.com/neuro-oncology/article-pdf/17/4/596/6880183/nou235.pdfTest

المؤلفون: Reiter-Purtill, J., Schorry, E. K., Lovell, A. M., Vannatta, K., Gerhardt, C. A., Noll, R. B.

المصدر: Journal of Pediatric Psychology ; volume 33, issue 4, page 422-434 ; ISSN 0146-8693 1465-735X

مصطلحات موضوعية: Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1093/jpepsy/jsm077Test
http://academic.oup.com/jpepsy/article-pdf/33/4/422/4859627/jsm077.pdfTest

المؤلفون: Wedig, K E, Kogan, J, Schorry, E K, Whitsett, J A

المصدر: Journal of Perinatology ; volume 26, issue 6, page 371-374 ; ISSN 0743-8346 1476-5543

مصطلحات موضوعية: Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1038/sj.jp.7211508Test
https://www.nature.com/articles/7211508.pdfTest
https://www.nature.com/articles/7211508Test

المؤلفون: Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

المصدر: Neuromuscular Disorders ; volume 28, page S85 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2018.06.218Test
https://api.elsevier.com/content/article/PII:S0960896618307818?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896618307818?httpAccept=text/plainTest

المؤلفون: Hanemann, CO, Wolters, PL, Martin, S, Merker, VL, Tonsgard, JH, Soloman, SE, Baldwin, A, Bergner, AL, Walsh, K, Thompson, HL, Gardner, KL, HIngtgen, CM, Schorry, E, Dudley, WN, Franklin, B

وصف الملف: S4 - S12

العلاقة: http://hdl.handle.net/10026.1/6501Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000002927Test
http://hdl.handle.net/10026.1/6501Test

المؤلفون: Johnson, K. J., Fisher, M. J., Listernick, R. L., North, K. N., Schorry, E. K., Viskochil, D., Weinstein, M., Rubin, J. B., Gutmann, D. H.

المصدر: Familial Cancer ; volume 11, issue 4, page 653-656 ; ISSN 1389-9600 1573-7292

مصطلحات موضوعية: Cancer Research, Genetics (clinical), Oncology, Genetics

الإتاحة: https://doi.org/10.1007/s10689-012-9549-zTest