المؤلفون: Garibaldi, F., Cisbani, E., Cusanno, F., De Vincentis, G., Giuliani, F., Lucentini, M., Magliozzi, M. L., Majewski, S., Marano, G., Musico, P., Santanvenere, F., Tsui, B. M. W., Wang, Y.

مصطلحات موضوعية: Physics - Medical Physics, Physics - Instrumentation and Detectors

URL الوصول: http://arxiv.org/abs/1910.08781

المؤلفون: Mao, K., Borel, C., Ansar, M., Jolly, A., Makrythanasis, P., Froehlich, C., Iwaszkiewicz, J., Wang, B., Xu, X., Li, Q., Blanc, X., Zhu, H., Chen, Q., Jin, F., Ankamreddy, H., Singh, S., Zhang, H., Wang, X., Chen, P., Ranza, E., Paracha, S.A., Shah, S.F., Guida, V., Piceci-Sparascio, F., Melis, D., Dallapiccola, B., Digilio, M.C., Novelli, A., Magliozzi, M., Fadda, M.T., Streff, H., Machol, K., Lewis, R.A., Zoete, V., Squeo, G.M., Prontera, P., Mancano, G., Gori, G., Mariani, M., Selicorni, A., Psoni, S., Fryssira, H., Douzgou, S., Marlin, S., Biskup, S., De Luca, A., Merla, G., Zhao, S., Cox, T.C., Groves, A.K., Lupski, J.R., Zhang, Q., Zhang, Y.B., Antonarakis, S.E.

المصدر: Nature communications, vol. 14, no. 1, pp. 2026

مصطلحات موضوعية: Animals, Mice, Goldenhar Syndrome/pathology, Facial Asymmetry, Pedigree, Forkhead Transcription Factors

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37041148; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0699EC8ECF822; https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82; https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82
https://doi.org/10.1038/s41467-023-37703-6
https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822

المؤلفون: Baban A., Magliozzi M., Loeys B., Adorisio R., Alesi V., Secinaro A., Corica B., Vricella L., Dietz H. C., Drago F., Novelli A., Amodeo A.

المساهمون: Baban, A., Magliozzi, M., Loeys, B., Adorisio, R., Alesi, V., Secinaro, A., Corica, B., Vricella, L., Dietz, H. C., Drago, F., Novelli, A., Amodeo, A.

مصطلحات موضوعية: Aortic dilatation, Loeys-Dietz syndrome (LDS), mosaicism, oculo cutaneous albinism (OCA), TGFBR1, TGFBR2, adult, albinism, oculocutaneou, aorta, child, dilatation, pathologic, female, gene expression, germ-line mutation, human, Loeys-Dietz syndrome, magnetic resonance angiography, male, mutation, missense, myocardium, receptor, transforming growth factor-beta Type I, maternal inheritance

Relation: info:eu-repo/semantics/altIdentifier/pmid/30219046; info:eu-repo/semantics/altIdentifier/wos/WOS:000444899000001; volume:19; issue:1; firstpage:170; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/11573/1285333; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053293251

الاتاحة: http://hdl.handle.net/11573/1285333
https://doi.org/10.1186/s12881-018-0661-2

المؤلفون: Pannone, L, BOCCHINFUSO, GIANFRANCO, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, Mc, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, Bd, Dallapiccola, B, STELLA, LORENZO, Ferrero, Gb, Martinelli, S, Tartaglia, M.

المساهمون: Pannone, L, Bocchinfuso, G, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, M, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, B, Dallapiccola, B, Stella, L, Ferrero, G, Martinelli, S, Tartaglia, M

مصطلحات موضوعية: Noonan syndrome, PTPN11 mutation, genotype-phenotype correlation analysi, structural and functional studies, Settore CHIM/02 - CHIMICA FISICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28074573; info:eu-repo/semantics/altIdentifier/wos/WOS:000397454000012; journal:HUMAN MUTATION; http://hdl.handle.net/2108/175492; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85012045855

الاتاحة: http://hdl.handle.net/2108/175492
https://doi.org/10.1002/humu.23175

المؤلفون: Zanetti M., Saha S., Marinelli D., Magliozzi M. L., Zavagli M., Costantini M., Bovolo F., Bruzzone L.

المساهمون: Zanetti, M., Saha, S., Marinelli, D., Magliozzi, M. L., Zavagli, M., Costantini, M., Bovolo, F., Bruzzone, L.

مصطلحات موضوعية: Artificial satellite, Earth, Indexe, MODIS, Remote sensing, Spatial resolution, Vegetation mapping

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000732771800001; volume:60; firstpage:540431501; lastpage:540431515; numberofpages:15; journal:IEEE TRANSACTIONS ON GEOSCIENCE AND REMOTE SENSING; http://hdl.handle.net/11572/337268; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115151773; https://ieeexplore.ieee.org/document/9540754

الاتاحة: http://hdl.handle.net/11572/337268
https://doi.org/10.1109/TGRS.2021.3110280
https://ieeexplore.ieee.org/document/9540754

المؤلفون: Agazzi C. (14297285), Magliozzi M. (14297288), Iacoviello O. (14297291), Palladino S. (14297294), Delvecchio M. (11830952), Masciopinto M. (14297297), Galati A. (14297300), Novelli A. (5713715), Causio F.A. (14297303), Zampino G. (14297306), Ruggiero C. (14297309), Fischetto R. (14297312)

مصطلحات موضوعية: Medicine, Heart defect, Intellectual disability, USP9X, X-linked disorder

Relation: https://figshare.com/articles/dataset/Supplementary_Material_for_Novel_Variant_in_the_b_i_USP9X_i_b_Gene_Is_Associated_with_Congenital_Heart_Disease_in_a_Male_Patient_A_Case_Report_and_Literature_Review/21776072

الاتاحة: https://doi.org/10.6084/m9.figshare.21776072.v1

المؤلفون: Zanetti M., Marinelli D., Bertoluzza M., Saha S., Bovolo F., Bruzzone L., Magliozzi M. L., Zavagli M., Costantini M.

المساهمون: Zanetti, M., Marinelli, D., Bertoluzza, M., Saha, S., Bovolo, F., Bruzzone, L., Magliozzi, M. L., Zavagli, M., Costantini, M.

مصطلحات موضوعية: Burned Area Detection, Multitemporal, Remote Sensing, Sentinel-2, Time-series

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-1-7281-4615-7; info:eu-repo/semantics/altIdentifier/wos/WOS:000587591800052; ispartofbook:2019 10th International Workshop on the Analysis of Multitemporal Remote Sensing Images (MultiTemp 2019); 10th International Workshop on the Analysis of Multitemporal Remote Sensing Images (MultiTemp 2019); firstpage:21; lastpage:24; numberofpages:4; http://hdl.handle.net/11572/254868; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074255257; https://ieeexplore.ieee.org/document/8866958

الاتاحة: http://hdl.handle.net/11572/254868
https://doi.org/10.1109/Multi-Temp.2019.8866958
https://ieeexplore.ieee.org/document/8866958

المؤلفون: Garibaldi F., Cisbani E., Cusanno F., Giuliani F., Lucentini M., Marano G., Magliozzi M. L., Majewski S., Musico P., Santanvenere F., Tsui B., De Vincentis G., Wang Y.

المساهمون: Garibaldi, F., Cisbani, E., Cusanno, F., Giuliani, F., Lucentini, M., Marano, G., Magliozzi, M. L., Majewski, S., Musico, P., Santanvenere, F., Tsui, B., De Vincentis, G., Wang, Y.

مصطلحات موضوعية: high-resolution, high-efficiency, single-photon detector, cardiovascular diseases

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000517134600005; volume:135; issue:2; journal:THE EUROPEAN PHYSICAL JOURNAL PLUS; http://hdl.handle.net/11573/1417267; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078716589

الاتاحة: http://hdl.handle.net/11573/1417267
https://doi.org/10.1140/epjp/s13360-020-00102-7

المؤلفون: Baban A., Adorisio R., Corica B., Rizzo C., Cali F., Semeraro M., Taurisano R., Magliozzi M., Carrozzo R., Parisi F., Dallapiccola B., Vaz F. M., Drago F., Dionisi-Vici C.

المساهمون: Baban, A., Adorisio, R., Corica, B., Rizzo, C., Cali, F., Semeraro, M., Taurisano, R., Magliozzi, M., Carrozzo, R., Parisi, F., Dallapiccola, B., Vaz, F. M., Drago, F., Dionisi-Vici, C.

مصطلحات موضوعية: delayed 3-MGA-uria, neonatal cardiomyopathy, TMEM70, Barth (TAZ)

Relation: info:eu-repo/semantics/altIdentifier/pmid/31729175; info:eu-repo/semantics/altIdentifier/wos/WOS:000496543500001; volume:182; issue:1; firstpage:64; lastpage:70; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1402653; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075485646

الاتاحة: http://hdl.handle.net/11573/1402653
https://doi.org/10.1002/ajmg.a.61383

المؤلفون: Lahrouchi, N., Postma, A.V., Salazar, C.M., Laughter, D.M. de, Tjong, F., Piherova, L., Bowling, F.Z., Zimmerman, D., Lodder, E.M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Skoric-Milosavljevic, D., Stranecky, V., Tomek, V., Knijff, P. de, Leeuw, R. de, Robinson, J.Y., Burn, S.C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D.M., Wolf, B., Kim, K.H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denomme-Pichon, A.S., Francannet, C., Ortiz, D., Haak, M.C., Harkel, A.D.J. ten, Manten, G.T.R., Dutman, A.C., Bouman, K., Magliozzi, M., Radio, F.C., Santen, G.W.E., Herkert, J.C., Brown, H.A., Elpeleg, O., Hoff, M.J.B. van den, Mulder, B., Airola, M.V., Kmoch, S., Barnett, J.V., Clur, S.A., Frohman, M.A., Bezzina, C.R.

المصدر: Journal of Clinical Investigation

وصف الملف: application/pdf

Relation: http://www.jci.org/articles/view/142148/files/pdf; lumc-id: 120550710; https://hdl.handle.net/1887/3213006

الاتاحة: https://hdl.handle.net/1887/3213006
http://www.jci.org/articles/view/142148/files/pdf
https://doi.org/10.1172/JCI142148

المؤلفون: Digilio M. C., Magliozzi M., Di Pede A., Valfre L., Dentici M. L., Auriti C., Marino B., Novelli A., Dallapiccola B.

المساهمون: Digilio, M. C., Magliozzi, M., Di Pede, A., Valfre, L., Dentici, M. L., Auriti, C., Marino, B., Novelli, A., Dallapiccola, B.

مصطلحات موضوعية: congenital heart defect, intestinal atresia, left-sided obstruction, NOTCH1 gene, vascular anomaly

Relation: info:eu-repo/semantics/altIdentifier/pmid/31111652; info:eu-repo/semantics/altIdentifier/wos/WOS:000478591600026; volume:179; issue:8; firstpage:1570; lastpage:1574; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1347974; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066111917

الاتاحة: http://hdl.handle.net/11573/1347974
https://doi.org/10.1002/ajmg.a.61195

المؤلفون: Kortum, F., Niceta, M., Magliozzi, M., Dumic Kubat, K., Robertson, S. P., Moresco, A., Dentici, M. L., Baban, A., Leoni, Chiara, Onesimo, Roberta, Obregon, M. G., Digilio, M. C., Zampino, Giuseppe, Novelli, A., Tartaglia, M., Kutsche, K., Leoni C., Onesimo R., Zampino G. (ORCID:0000-0003-3865-3253)

مصطلحات الفهرس: ABCC9, Cantú syndrome, Coarse face, Gain-of-function, Potassium channel, Zimmermann-Laband syndrome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/166647
info:eu-repo/semantics/altIdentifier/pmid/32622958
info:eu-repo/semantics/altIdentifier/wos/WOS:000560293400005
volume:63
issue:9
firstpage:N/A
lastpage:N/A
issueyear:2020
journal:EUROPEAN JOURNAL OF MEDICAL GENETICS

Alternate Title: Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant. (English)

المؤلفون: Cammarata-Scalisi, F., Capolino, R., Magliozzi, M., Novelli, A., Galeotti, A., Callea, M.

المصدر: Acta Ortopédica Mexicana; nov/dic2021, Vol. 35 Issue 6, p567-571, 5p

المؤلفون: Carecchio, M., Magliozzi, M., Copetti, M., Ferraris, A., Bernardini, L., Bonetti, M., Edwards, M. J., Torrente, I., Pellegrini, F., Comi, C., Bhatia, K. P., VALENTE, ENZA MARIA

المساهمون: Carecchio, M., Magliozzi, M., Copetti, M., Ferraris, A., Bernardini, L., Bonetti, M., Edwards, M. J., Torrente, I., Pellegrini, F., Comi, C., Bhatia, K. P., Valente, ENZA MARIA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000305507704140; ispartofbook:MOVEMENT DISORDERS; 16th International Congress of Parkinson's Disease and Movement Disorders; volume:27; firstpage:S449; lastpage:S450; numberofpages:2; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11571/1180814

الاتاحة: http://hdl.handle.net/11571/1180814

المؤلفون: Carecchio, M., Bonetti, M., Magliozzi, M., Edwards, M. J., Ferraris, A., Torrente, I., Bhatia, K. P., VALENTE, ENZA MARIA

المساهمون: Carecchio, M., Bonetti, M., Magliozzi, M., Edwards, M. J., Ferraris, A., Torrente, I., Bhatia, K. P., Valente, ENZA MARIA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000291359502186; ispartofbook:MOVEMENT DISORDERS; 15th International Congress of Parkinsons Disease and Movement Disorders; volume:26; firstpage:S324; lastpage:S324; numberofpages:1; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11571/1177992

الاتاحة: http://hdl.handle.net/11571/1177992

المؤلفون: Carecchio, M., Bonetti, M., Magliozzi, M., Edwards, M. J., Ferraris, A., Torrente, I., Bhatia, K., VALENTE, ENZA MARIA

المساهمون: Carecchio, M., Bonetti, M., Magliozzi, M., Edwards, M. J., Ferraris, A., Torrente, I., Valente, ENZA MARIA, Bhatia, K.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000277955200030; ispartofbook:JOURNAL OF NEUROLOGY; 20th Meeting of the European-Neurological-Society; volume:257; firstpage:S12; lastpage:S13; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11571/1180778

الاتاحة: http://hdl.handle.net/11571/1180778

المؤلفون: GUARINI, Anna, CHIARETTI, sabina, MAURO, Francesca Romana, DEL GIUDICE, ILARIA, FOA, Roberto, Marinelli M, Tavolaro S, Torrente I, Bellacchio E, Magliozzi M, Santangelo S, Peragine N, De Propris MS, Nanni M, Dallapiccola B

المساهمون: Guarini, Anna, Marinelli, M, Tavolaro, S, Torrente, I, Bellacchio, E, Magliozzi, M, Santangelo, S, Peragine, N, De Propris, M, Nanni, M, Chiaretti, Sabina, Mauro, Francesca Romana, DEL GIUDICE, Ilaria, Dallapiccola, B, Foa, Roberto

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000262104702417; 50th Annual Meeting of the American-Society-of-Hematology; volume:112 (11); firstpage:725; lastpage:725; numberofpages:1; journal:BLOOD; http://hdl.handle.net/11573/472059; http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=133&SID=X2KjnPj8fK6cdKa3I8m&page=1&doc=3

الاتاحة: http://hdl.handle.net/11573/472059
http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=133&SID=X2KjnPj8fK6cdKa3I8m&page=1&doc=3

المؤلفون: Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, VALENTE, Enza Maria

المساهمون: Carecchio, M, Magliozzi, M, Copetti, M, Ferraris, A, Bernardini, L, Bonetti, M, Defazio, G, Edwards, Mj, Torrente, I, Pellegrini, F, Comi, C, Bhatia, Kp, Valente, Enza Maria

Relation: info:eu-repo/semantics/altIdentifier/pmid/23677909; info:eu-repo/semantics/altIdentifier/wos/000320941200022; volume:28; firstpage:787; lastpage:794; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11386/4025856

الاتاحة: http://hdl.handle.net/11386/4025856

المؤلفون: Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Bhatia KP, Valente E.M., COMI, Cristoforo

المساهمون: Carecchio, M, Magliozzi, M, Copetti, M, Ferraris, A, Bernardini, L, Bonetti, M, Defazio, G, Edwards, Mj, Torrente, I, Pellegrini, F, Comi, Cristoforo, Bhatia, Kp, Valente, E. M.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000320941200022; volume:28; firstpage:787; lastpage:794; numberofpages:8; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11579/34717; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879603088

الاتاحة: http://hdl.handle.net/11579/34717

المؤلفون: Natale, V. Giancarlo, Kafri, A., Tidhar, G. A., Chen, M., Feingersh, T., Sagi, E., Cisbani, A., Baroni, M., Labate, D., Nadler, R., Leizer, A., Signorile, S., Tempesta, P., Magliozzi, M. Lucia, Catallo, C., Pietropaolo, A.

المصدر: 2013 5th Workshop on Hyperspectral Image and Signal Processing: Evolution in Remote Sensing (WHISPERS)

الاتاحة: http://dx.doi.org/10.1109/whispers.2013.8080667
http://xplorestaging.ieee.org/ielx7/8054774/8080590/08080667.pdf?arnumber=8080667