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: 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: 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