المؤلفون: Milani D, Pezzani L, Tabano S, Miozzo M

المصدر: The Application of Clinical Genetics, Vol 2014, Iss default, Pp 169-175 (2014)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/beckwithndashwiedemann-and-image-syndromes-two-very-different-diseases-peer-reviewed-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/b94de3052bb84d74b1029139c6fc2630Test

المؤلفون: Negri, A, Milani, D

المساهمون: Ambrosini, M, D'Amico, M, Perassi, E, Negri, A, Milani, D

مصطلحات موضوعية: Confini, carcere, pluralismo, diritti, sicurezza, libertà religiosa, IUS/11 - DIRITTO ECCLESIASTICO E CANONICO

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/979-12-80325-72-3; ispartofbook:Confini, Migrazioni e Diritti umani; firstpage:123; lastpage:148; numberofpages:26; alleditors:Ambrosini, M; D'Amico, M; Perassi, E; https://hdl.handle.net/10281/396559Test

الإتاحة: https://hdl.handle.net/10281/396559Test

المؤلفون: Meossi, C., Carrer, A., Ciaccio, C., Estienne, M., Silipigni, R., Sciacca, F. L., Pantaleoni, C., D'Arrigo, S., Milani, D.

المساهمون: C. Meossi, A. Carrer, C. Ciaccio, M. Estienne, R. Silipigni, F.L. Sciacca, C. Pantaleoni, S. D'Arrigo, D. Milani

مصطلحات موضوعية: 15q11, 2 BP1-BP2 CNV, Intellectual disability, Magnesium, Neurodevelopmental disorder, Parent-of-origin effect, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000979023600001; volume:67; issue:7; firstpage:679; lastpage:689; numberofpages:11; journal:JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; https://hdl.handle.net/2434/1032275Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85154030177

الإتاحة: https://doi.org/10.1111/jir.13038Test
https://hdl.handle.net/2434/1032275Test

المؤلفون: Iandiorio, C, Milani, D, Salvini, P

المصدر: IOP Conference Series: Materials Science and Engineering ; volume 1275, issue 1, page 012030 ; ISSN 1757-8981 1757-899X

الإتاحة: https://doi.org/10.1088/1757-899x/1275/1/012030Test

المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

المؤلفون: Cozzi R, Ambrosio MR, Attanasio R, Battista C, Bozzao A, Caputo M, Ciccarelli E, De Marinis L, De Menis E, Faustini Fustini M, Grimaldi F, Lania A, Lasio G, Logoluso F, Losa M, Maffei P, Milani D, Poggi M, Zini M, Katznelson L, Luger A, Poiana C.

المساهمون: Cozzi, R, Ambrosio, Mr, Attanasio, R, Battista, C, Bozzao, A, Caputo, M, Ciccarelli, E, De Marinis, L, De Menis, E, Faustini Fustini, M, Grimaldi, F, Lania, A, Lasio, G, Logoluso, F, Losa, M, Maffei, P, Milani, D, Poggi, M, Zini, M, Katznelson, L, Luger, A, Poiana, C.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35000899; info:eu-repo/semantics/altIdentifier/wos/WOS:000821200400002; volume:186; issue:3; firstpage:P1; lastpage:P33; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; https://hdl.handle.net/11577/3476643Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124056736

الإتاحة: https://doi.org/10.1530/EJE-21-0977Test
https://hdl.handle.net/11577/3476643Test

المؤلفون: Rinaldi B., Ge Y. -H., Freri E., Tucci A., Granata T., Estienne M., Sun J. -H., Gerard B., Bayat A., Efthymiou S., Gervasini C., Shi Y. S., Houlden H., Marchisio P., Milani D.

المساهمون: B. Rinaldi, Y.-. Ge, E. Freri, A. Tucci, T. Granata, M. Estienne, J.-. Sun, B. Gerard, A. Bayat, S. Efthymiou, C. Gervasini, Y.S. Shi, H. Houlden, P. Marchisio, D. Milani

مصطلحات موضوعية: AMPAR, cerebellar hypoplasia, glutamate, GRIA3, myoclonic status epilepticus, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34731330; info:eu-repo/semantics/altIdentifier/wos/WOS:000714312400001; volume:23; issue:1; firstpage:27; lastpage:35; numberofpages:9; journal:NEUROGENETICS; http://hdl.handle.net/2434/893317Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118528582

الإتاحة: https://doi.org/10.1007/s10048-021-00666-1Test
http://hdl.handle.net/2434/893317Test

المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Ostergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B

العلاقة: pii: S2666-2477(21)00056-7; Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S. ,. Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HUMAN GENETICS AND GENOMICS ADVANCES, 3 (1), https://doi.org/10.1016/j.xhgg.2021.100075Test.; http://hdl.handle.net/11343/305257Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/11343/305257Test

المؤلفون: Sironi A., Bestetti I., Masciadri M., Tumiatti F., Crippa M., Pantaleoni C., Russo S., D'Arrigo S., Milani D., Larizza L., Finelli P.

المساهمون: A. Sironi, I. Bestetti, M. Masciadri, F. Tumiatti, M. Crippa, C. Pantaleoni, S. Russo, S. D'Arrigo, D. Milani, L. Larizza, P. Finelli

مصطلحات موضوعية: Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35821519; info:eu-repo/semantics/altIdentifier/wos/WOS:000823315800001; volume:30; issue:11; firstpage:1233; lastpage:1238; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2434/963160Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134033741

الإتاحة: https://doi.org/10.1038/s41431-022-01143-5Test
https://hdl.handle.net/2434/963160Test

المؤلفون: Tisato V., Silva J. A., Longo G., Gallo I., Singh A. V., Milani D., Gemmati D.

المساهمون: Tisato, V., Silva, J. A., Longo, G., Gallo, I., Singh, A. V., Milani, D., Gemmati, D.

مصطلحات موضوعية: Autism spectrum disorder (ASD), Brain-epigenome, Epigenetic, Folate, Gender-gap, Gene variant, One-carbon metabolism gene, Sex-gap, SNPs

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34065323; info:eu-repo/semantics/altIdentifier/wos/WOS:000653922400001; volume:12; issue:5; firstpage:782-1; lastpage:782-20; numberofpages:20; journal:GENES; https://hdl.handle.net/11392/2461124Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107267699; https://www.mdpi.com/2073-4425/12/5/782Test

الإتاحة: https://doi.org/10.3390/genes12050782Test
https://hdl.handle.net/11392/2461124Test
https://www.mdpi.com/2073-4425/12/5/782Test