المؤلفون: Bonaglia M. C., Kurtas N. E., Errichiello E., Bertuzzo S., Beri S., Mehrjouy M. M., Provenzano A., VERGANI, DEBORA, Pecile V., Novara F., Reho P., Di Giacomo M. C., Discepoli G., Giorda R., Aldred M. A., Santos-Reboucas C. B., Goncalves A. P., Abuelo D. N., Giglio S., Ricca I., Franchi F., Patsalis P., Sismani C., Mori M. A., Nevado J., Tommerup N., Zuffardi O.

المساهمون: Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, Debora, Pecile, V., Novara, F., Reho, P., Di Giacomo, M. C., Discepoli, G., Giorda, R., Aldred, M. A., Santos-Reboucas, C. B., Goncalves, A. P., Abuelo, D. N., Giglio, S., Ricca, I., Franchi, F., Patsalis, P., Sismani, C., Mori, M. A., Nevado, J., Tommerup, N., Zuffardi, O.

مصطلحات موضوعية: Chromothripsi, Meiosi, Mosaicism, Parental origin, Telomere capture, Trisomy rescue, Female, Human, Male, Translocation, Genetic, DNA end-joining repair, Recombinational DNA repair

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30276538; info:eu-repo/semantics/altIdentifier/wos/WOS:000448272500005; volume:137; issue:10; firstpage:817; lastpage:829; numberofpages:13; journal:HUMAN GENETICS; http://hdl.handle.net/11584/298084Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054311357; http://www.springerlink.com/content/100421Test/

الإتاحة: https://doi.org/10.1007/s00439-018-1941-9Test
http://hdl.handle.net/11584/298084Test
http://www.springerlink.com/content/100421Test/

المؤلفون: Villa, N, Conconi, D, Benussi, D Gambel, Tornese, G, Crosti, F, Sala, E, Dalprà, L, Pecile, V

المساهمون: Villa, N, Conconi, D, Benussi, D Gambel, Tornese, G, Crosti, F, Sala, E, Dalprà, L, Pecile, V

مصطلحات موضوعية: Chromosome complex rearrangement, Telomeric-centromeric X rearrangement

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28630649; info:eu-repo/semantics/altIdentifier/wos/WOS:000403290600001; volume:10; issue:1; firstpage:-; lastpage:-; numberofpages:7; journal:MOLECULAR CYTOGENETICS; http://hdl.handle.net/11368/2944362Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020705645; https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-017-0323-7Test

الإتاحة: https://doi.org/10.1186/s13039-017-0323-7Test
http://hdl.handle.net/11368/2944362Test

المؤلفون: Salman, S., Fan, Mingqi, Ma, Y., Mohr, C., Heckl, O. H., Heyl, C. M., Hartl, I., Tünnermann, H., Balla, P., Darvill, J., Laumer, D., Pecile, V., Fellinger, J., Shumakova, V., Mahnke, C.

المصدر: Optica Publishing Group Washington, D.C. (2022). doi:10.1364/CLEO_SI.2022.SF2M.1 ; Conference on Lasers and Electro-Optics : [Proceedings] - Optica Publishing Group Washington, D.C., 2022. - ISBN 978-1-957171-05-0 ; Conference on Lasers and Electro-Optics : [Proceedings] - Optica Publishing Group Washington, D.C., 2022. - ISBN 978-1-957171-05-0 CLEO: Science and Innovations, San Jose, USA, 2022-05-15 - 2022-05-20

جغرافية الموضوع: DE

العلاقة: https://repository.gsi.de/record/246865Test; https://repository.gsi.de/search?p=id:%22GSI-2022-00650%22Test

الإتاحة: https://doi.org/10.1364/CLEO_SI.2022.SF2M.1Test
https://repository.gsi.de/record/246865Test
https://repository.gsi.de/search?p=id:%22GSI-2022-00650%22Test

المؤلفون: Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.

المساهمون: Ministero della Salute and Regione Lombardia, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Flagship ‘InterOmics’, Fondazione Regionale per la Ricerca Biomedica

المصدر: Epigenetics ; volume 13, issue 9, page 897-909 ; ISSN 1559-2294 1559-2308

الإتاحة: https://doi.org/10.1080/15592294.2018.1514230Test

المؤلفون: Disciglio, V, Lo Rizzo, C, Mencarelli, MA, Mucciolo, M, Marozza, A, Di Marco, C, Massarelli, A, Canocchi, V, Baldassarri, M, Ndoni, E, Frullanti, E, Amabile, S, Anderlid, BM, Metcalfe, K, Le Caignec, C, David, A, Fryer, A, Boute, O, Joris, A, Greco, D, Pecile, V, Battini, R, Novelli, A, Fichera, M, Romano, C, Mari, F, Renieri, A

المصدر: American journal of medical genetics. Part A. 164(164A):1666-1676

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129202960Test

المؤلفون: Bourkoula, E., Mangoni, D, Ius, T., Pucer, A., ISOLA, Miriam, Musiello, D., Marzinotto, S., Toffoletto, B., Sorrentino, M., Palma, A., Caponnetto, F., Gregoraci, G., Vindigni, M., Pizzolitto, S., Falconieri, G., De Maglio, G., Pecile, V., RUARO, Maria Elisabetta, Gri, G., Parisse, P., Casalis, L., Scoles, G., Skrap, M., BELTRAMI, Carlo Alberto, BELTRAMI, Antonio Paolo, CESSELLI, Daniela

المساهمون: Bourkoula, E., Mangoni, D, Ius, T., Pucer, A., Isola, Miriam, Musiello, D., Marzinotto, S., Toffoletto, B., Sorrentino, M., Palma, A., Caponnetto, F., Gregoraci, G., Vindigni, M., Pizzolitto, S., Falconieri, G., De Maglio, G., Pecile, V., Ruaro, Maria Elisabetta, Gri, G., Parisse, P., Casalis, L., Scoles, G., Skrap, M., Beltrami, Carlo Alberto, Beltrami, Antonio Paolo, Cesselli, Daniela

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000334597200018; volume:32; issue:5; firstpage:1239; lastpage:1253; numberofpages:15; journal:STEM CELLS; http://hdl.handle.net/11390/1000351Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899031073

الإتاحة: https://doi.org/10.1002/stem.1605Test
http://hdl.handle.net/11390/1000351Test

المؤلفون: Rocca, M. S., Pecile, V., Cleva, L., Speltra, E., Selice, R., Di Mambro, A., Foresta, C., Ferlin, A.

المصدر: Andrology ; volume 4, issue 2, page 328-334 ; ISSN 2047-2919 2047-2927

الإتاحة: https://doi.org/10.1111/andr.12146Test

المؤلفون: Catusi I., Recalcati M. P., Bestetti I., Garzo M., Valtorta C., Alfonsi M., Alghisi A., Cappellani S., Casalone R., Caselli R., Ceccarini C., Ceglia C., Ciaschini A. M., Coviello D., Crosti F., D'Aprile A., Fabretto A., Genesio R., Giagnacovo M., Granata P., Longo I., Malacarne M., Marseglia G., Montaldi A., Nardone A. M., Palka C., Pecile V., Pessina C., Postorivo D., Redaelli S., Renieri A., Rigon C., Tiberi F., Tonelli M., Villa N., Zilio A., Zuccarello D., Novelli A., Larizza L., Giardino D.

المساهمون: Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P., Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L., Giardino, D.

مصطلحات موضوعية: Chromosomal microarray analysis (CMA), clinical marker identification, detection rate, pathogenic CNV

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31851782; info:eu-repo/semantics/altIdentifier/wos/WOS:000503115500001; volume:8; issue:1; firstpage:e1056; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11365/1126814Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076756874

الإتاحة: https://doi.org/10.1002/mgg3.1056Test
http://hdl.handle.net/11365/1126814Test

المؤلفون: Monasta L., Giangreco M., Ancona E., Barbone F., Bet E., Boschian-Bailo P., Cacciaguerra G., Cagnacci A., Canton M., Casarotto M., Comar M., Contardo S., De Agostini M., De Seta F., Del Ben G., Di Loreto C., Driul L., Facchin S., Giornelli R., Ianni A., La Valle S., Londero A. P., Manfe M., Maso G., Mugittu R., Olivuzzi M., Orsaria M., Pecile V., Pinzano R., Pirrone F., Quadrifoglio M., Ricci G., Ronfani L., Salviato T., Sandrigo E., Smiroldo S., Sorz A., Stampalija T., Urriza M., Vanin M., Verardi G., Alberico S.

المساهمون: Monasta, L., Giangreco, M., Ancona, E., Barbone, F., Bet, E., Boschian-Bailo, P., Cacciaguerra, G., Cagnacci, A., Canton, M., Casarotto, M., Comar, M., Contardo, S., De Agostini, M., De Seta, F., Del Ben, G., Di Loreto, C., Driul, L., Facchin, S., Giornelli, R., Ianni, A., La Valle, S., Londero, A. P., Manfe, M., Maso, G., Mugittu, R., Olivuzzi, M., Orsaria, M., Pecile, V., Pinzano, R., Pirrone, F., Quadrifoglio, M., Ricci, G., Ronfani, L., Salviato, T., Sandrigo, E., Smiroldo, S., Sorz, A., Stampalija, T., Urriza, M., Vanin, M., Verardi, G., Alberico, S.

مصطلحات موضوعية: Intrauterine death, Small for gestational age, Stillbirth

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32611322; info:eu-repo/semantics/altIdentifier/wos/WOS:000546992200002; volume:20; firstpage:384; lastpage:393; numberofpages:10; journal:BMC PREGNANCY AND CHILDBIRTH; http://hdl.handle.net/11567/1021601Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087470846

الإتاحة: https://doi.org/10.1186/s12884-020-03074-9Test
http://hdl.handle.net/11567/1021601Test

المؤلفون: Bottega R., Perrone M. D., Vecchiato K., Taddio A., Sabui S., Pecile V., Said H. M., Faletra F.

المساهمون: Bottega, R., Perrone, M. D., Vecchiato, K., Taddio, A., Sabui, S., Pecile, V., Said, H. M., Faletra, F.

مصطلحات موضوعية: Adolescent, Brain Disease, Human, Male, Microcephaly, Mitochondrial Membrane Transport Protein, Mutation, Protein Conformation, RNA, Messenger, Thiamine, Thiamine Deficiency, Genetic Predisposition to Disease

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31506564; info:eu-repo/semantics/altIdentifier/wos/WOS:000493291400003; volume:64; issue:11; firstpage:1075; lastpage:1081; numberofpages:7; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2958867Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072039155; https://www.nature.com/articles/s10038-019-0666-5#Sec17Test

الإتاحة: https://doi.org/10.1038/s10038-019-0666-5Test
http://hdl.handle.net/11368/2958867Test
https://www.nature.com/articles/s10038-019-0666-5#Sec17Test