المؤلفون: De Santis, R., Cagnoli, G., Rinaldi, B., Consonni, D., Conti, Beatrice, Eoli, M., Liguori, A., Cosentino, M., Carrafiello, G., Garrone, O., Giroda, M., Cesaretti, C., Sfondrini, M.S., Gambini, D., Natacci, F.

المساهمون: Università degli Studi di Milano

المصدر: Familial Cancer ; ISSN 1389-9600 1573-7292

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

الإتاحة: https://doi.org/10.1007/s10689-023-00355-yTest

المؤلفون: Tortora S, Esposito A, Della Pepa G, Paternò M, Cagnoli GA, Cesaretti C, Natacci F, Carrafiello G

المصدر: Reports in Medical Imaging, Vol Volume 14, Pp 41-51 (2021)

مصطلحات موضوعية: neurofibromatosis 1, neurofibroma, plexiform neurofibroma, nerve sheath tumour, magnetic resonance imaging, Medical physics. Medical radiology. Nuclear medicine, R895-920

العلاقة: https://www.dovepress.com/neurofibromatosis-type-1-with-neck-and-thoraco-abdominal-involvement-a-peer-reviewed-article-RMITest; https://doaj.org/toc/1179-1586Test; https://doaj.org/article/d15191a4fd404fd490216890bbba27e8Test

الإتاحة: https://doaj.org/article/d15191a4fd404fd490216890bbba27e8Test

المؤلفون: Milani D., Dolci A., Muller I., Pavesi M. A., Runza L., Kuhn E., Natacci F., Peissel B., Ricci M. T., Despini L., Tomasello G., Grossi F., Garrone O., Gambini D.

المساهمون: D. Milani, A. Dolci, I. Muller, M.A. Pavesi, L. Runza, E. Kuhn, F. Natacci, B. Peissel, M.T. Ricci, L. Despini, G. Tomasello, F. Grossi, O. Garrone, D. Gambini

مصطلحات موضوعية: Cowden, PHTS, PTEN, Thyroid, Settore MED/13 - Endocrinologia, Settore MED/08 - Anatomia Patologica, Settore MED/06 - Oncologia Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36690897; info:eu-repo/semantics/altIdentifier/wos/WOS:000919713600001; journal:ENDOCRINE; https://hdl.handle.net/2434/954458Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146696901

الإتاحة: https://doi.org/10.1007/s12020-023-03313-xTest
https://hdl.handle.net/2434/954458Test

المؤلفون: Bestetti I., Crippa M., Sironi A., Tumiatti F., Masciadri M., Smeland M. F., Naik S., Murch O., Bonati M. T., Spano A., Cattaneo E., Mariani M., Gotta F., Crosti F., Cavalli P., Pantaleoni C., Natacci F., Bedeschi M. F., Milani D., Maitz S., Selicorni A., Spaccini L., Peron A., Russo S., Larizza L., Low K., Finelli P.

المساهمون: I. Bestetti, M. Crippa, A. Sironi, F. Tumiatti, M. Masciadri, M.F. Smeland, S. Naik, O. Murch, M.T. Bonati, A. Spano, E. Cattaneo, M. Mariani, F. Gotta, F. Crosti, P. Cavalli, C. Pantaleoni, F. Natacci, M.F. Bedeschi, D. Milani, S. Maitz, A. Selicorni, L. Spaccini, A. Peron, S. Russo, L. Larizza, K. Low, P. Finelli

مصطلحات موضوعية: ANKRD11 gene expression analysi, ANKRD11 variation, KBG syndrome, diagnostic flow chart, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35682590; info:eu-repo/semantics/altIdentifier/wos/WOS:000809958000001; volume:23; issue:11; firstpage:1; lastpage:16; numberofpages:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/963159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130794381

الإتاحة: https://doi.org/10.3390/ijms23115912Test
https://hdl.handle.net/2434/963159Test

المؤلفون: Nicolini, U, Lalatta, F, Natacci, F, Curcio, C, Bui, TH

المصدر: Human reproduction update. 10(6):541-548

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1941822Test

المؤلفون: Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M

المساهمون: Bianchessi, D, Ibba, M, Saletti, V, Blasa, S, Langella, T, Paterra, R, Cagnoli, G, Melloni, G, Scuvera, G, Natacci, F, Cesaretti, C, Finocchiaro, G, Eoli, M

مصطلحات موضوعية: neurofibromatosis type 1, targeted next generation sequencing (NGS), schwannomatosi, MED/03 - GENETICA MEDICA

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32575496; info:eu-repo/semantics/altIdentifier/wos/WOS:000550919400001; volume:11; issue:6; firstpage:1; lastpage:12; numberofpages:12; journal:GENES; http://hdl.handle.net/10281/301248Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086969062; https://www.mdpi.com/2073-4425/11/6/671Test

الإتاحة: https://doi.org/10.3390/genes11060671Test
http://hdl.handle.net/10281/301248Test
https://www.mdpi.com/2073-4425/11/6/671Test

المؤلفون: Bianchessi, D., Morosini, S., Ibba, C., Esposito, S., Saletti, V., Riva, D., Natacci, F., Finocchiaro, G., Eoli, M.

المصدر: Neuro-Oncology ; volume 16, issue suppl 2, page ii72-ii72 ; ISSN 1522-8517 1523-5866

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

الإتاحة: https://doi.org/10.1093/neuonc/nou174.273Test
http://academic.oup.com/neuro-oncology/article-pdf/16/suppl_2/ii72/3616771/nou174.273.pdfTest

المؤلفون: Kurtas N. E., Xumerle L., Leonardelli L., Delledonne M., Brusco A., Chrzanowska K., Schinzel A., Larizza D., Guerneri S., Natacci F., Bonaglia M. C., Reho P., Manolakos E., Mattina T., Soli F., Provenzano A., Al-Rikabi A. H., Errichiello E., Nazaryan-Petersen L., Giglio S., Tommerup N., Liehr T., Zuffardi O.

المساهمون: Kurtas, N. E., Xumerle, L., Leonardelli, L., Delledonne, M., Brusco, A., Chrzanowska, K., Schinzel, A., Larizza, D., Guerneri, S., Natacci, F., Bonaglia, M. C., Reho, P., Manolakos, E., Mattina, T., Soli, F., Provenzano, A., Al-Rikabi, A. H., Errichiello, E., Nazaryan-Petersen, L., Giglio, S., Tommerup, N., Liehr, T., Zuffardi, O.

مصطلحات موضوعية: chromothripsi, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS), Allele, Chromosome, Comparative Genomic Hybridization, Female, Haplotype, Human, In Situ Hybridization, Fluorescence, Maternal Age, Maternal Inheritance, Mosaicism, Phenotype, Prenatal Diagnosi, Trisomy, Chromosome Aberrations

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30412329; info:eu-repo/semantics/altIdentifier/wos/WOS:000455769100006; volume:40; issue:2; firstpage:193; lastpage:200; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11571/1340531Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056877249

الإتاحة: https://doi.org/10.1002/humu.23683Test
http://hdl.handle.net/11571/1340531Test

المؤلفون: Bedeschi, M.F., Bianchi, V., Gentilin, B., Colombo, L., Natacci, F., Giglio, S., Andreucci, E., Trespidi, L., Acaia, B., Furga, A.S., Lalatta, F.

المصدر: Orphanet Journal of Rare Diseases, vol. 6, no. 1, pp. 7

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21356074; info:eu-repo/semantics/altIdentifier/eissn/1750-1172; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_119CBCBE88E79; https://serval.unil.ch/notice/serval:BIB_119CBCBE88E7Test; urn:issn:1750-1172; https://serval.unil.ch/resource/serval:BIB_119CBCBE88E7.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_119CBCBE88E79Test

الإتاحة: https://doi.org/10.1186/1750-1172-6-7Test
https://serval.unil.ch/notice/serval:BIB_119CBCBE88E7Test
https://serval.unil.ch/resource/serval:BIB_119CBCBE88E7.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_119CBCBE88E79Test

المؤلفون: Biasucci G, Morelli N, Natacci F, Mastrangelo M

المساهمون: Biasucci, G, Morelli, N, Natacci, F, Mastrangelo, M

مصطلحات موضوعية: Perinatal asphyxia, Neonatal Glutaric aciduria type 1, Neonatal epileptic seizure, Post-natal neurological damage, Expanded newborn screening

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000419981500002; volume:44; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11381/2930989Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040793095

الإتاحة: https://doi.org/10.1186/s13052-018-0450-8Test
http://hdl.handle.net/11381/2930989Test