المؤلفون: Rosina E., Rinaldi B., Silipigni R., Bergamaschi L., Gattuso G., Signoroni S., Guerneri S., Carnevali A., Marchisio P. G., Milani D.

المساهمون: E. Rosina, B. Rinaldi, R. Silipigni, L. Bergamaschi, G. Gattuso, S. Signoroni, S. Guerneri, A. Carnevali, P.G. Marchisio, D. Milani

مصطلحات موضوعية: 22q11.2 deletion syndrome, APC, Case report, DNA microarray, Hepatoblastoma, Incidental finding, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33588901; info:eu-repo/semantics/altIdentifier/wos/WOS:000620253600001; volume:47; issue:1; firstpage:1; lastpage:7; numberofpages:7; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/857309Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100867515

الإتاحة: https://doi.org/10.1186/s13052-021-00969-xTest
http://hdl.handle.net/2434/857309Test

المؤلفون: Tavanti G. S., Verdelli C., Morotti A., Maroni P., Guarnieri V., Scillitani A., Silipigni R., Guerneri S., Maggiore R., Mari G., Vicentini L., Ciaramella P. D., Vaira V., Corbetta S.

المساهمون: G.S. Tavanti, C. Verdelli, A. Morotti, P. Maroni, V. Guarnieri, A. Scillitani, R. Silipigni, S. Guerneri, R. Maggiore, G. Mari, L. Vicentini, P.D. Ciaramella, V. Vaira, S. Corbetta

مصطلحات موضوعية: YAP1, LATS1/2, CASR, parathormone, MEN1, parathyroid tumors, Settore MED/13 - Endocrinologia, Settore MED/50 - Scienze Tecniche Mediche Applicate, Settore MED/46 - Scienze Tecniche di Medicina di Laboratorio

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33670622; info:eu-repo/semantics/altIdentifier/wos/WOS:000623839100001; volume:22; issue:4; firstpage:1; lastpage:19; numberofpages:19; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/858092Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101467904

الإتاحة: https://doi.org/10.3390/ijms22042016Test
http://hdl.handle.net/2434/858092Test

المؤلفون: Villa R., Fergnani V. G. C., Silipigni R., Guerneri S., Cinnante C., Guala A., Danesino C., Scola E., Conte G., Fumagalli M., Gangi S., Colombo L., Picciolini O., Ajmone P. F., Accogli A., Madia F., Tassano E., Scala M., Capra V., Srour M., Spaccini L., Righini A., Greco D., Castiglia L., Romano C., Bedeschi M. F.

المساهمون: R. Villa, V.G.C. Fergnani, R. Silipigni, S. Guerneri, C. Cinnante, A. Guala, C. Danesino, E. Scola, G. Conte, M. Fumagalli, S. Gangi, L. Colombo, O. Picciolini, P.F. Ajmone, A. Accogli, F. Madia, E. Tassano, M. Scala, V. Capra, M. Srour, L. Spaccini, A. Righini, D. Greco, L. Castiglia, C. Romano, M.F. Bedeschi

مصطلحات موضوعية: 5p deletion, Brain MRI, Cri-du-chat syndrome, Neuroradiological phenotype, Pontine hypoplasia, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32800423; info:eu-repo/semantics/altIdentifier/wos/WOS:000579769100017; volume:28; firstpage:110; lastpage:119; numberofpages:10; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/2434/782446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089357171

الإتاحة: https://doi.org/10.1016/j.ejpn.2020.07.002Test
http://hdl.handle.net/2434/782446Test

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: Tolva G., Silipigni R., Quarenghi A., Vergani P., Guerneri S., Milani D.

المساهمون: Tolva, G, Silipigni, R, Quarenghi, A, Vergani, P, Guerneri, S, Milani, D

مصطلحات موضوعية: isochromosome 18p, noninvasive prenatal testing, prenatal diagnosi, tetrasomy 18p, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 18, Female, Genetic Testing, Infant, Karyotyping, Pregnancy, Aneuploidy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30549132; info:eu-repo/semantics/altIdentifier/wos/WOS:000460180500027; volume:45; issue:3; firstpage:705; lastpage:708; numberofpages:4; journal:THE JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH; http://hdl.handle.net/10281/246492Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058712838; http://obgyn.onlinelibrary.wiley.com/hub/journal/10.1111Test/(ISSN)1447-0756/

الإتاحة: https://doi.org/10.1111/jog.13873Test
http://hdl.handle.net/10281/246492Test

المؤلفون: Aleo S., Milani D., Pansa A., Marchisio P., Guerneri S., Silipigni R.

المساهمون: S. Aleo, D. Milani, A. Pansa, P. Marchisio, S. Guerneri, R. Silipigni

مصطلحات موضوعية: Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32975021; info:eu-repo/semantics/altIdentifier/wos/WOS:000572411300001; volume:182A; issue:12; firstpage:3070; lastpage:3073; numberofpages:4; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/778425Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091353826

الإتاحة: https://doi.org/10.1002/ajmg.a.61881Test
http://hdl.handle.net/2434/778425Test

المؤلفون: Silipigni R., Milani D., Tolva G., Monfrini E., Giacobbe A., Marchisio P. G., Guerneri S.

المساهمون: R. Silipigni, D. Milani, G. Tolva, E. Monfrini, A. Giacobbe, P.G. Marchisio, S. Guerneri

مصطلحات موضوعية: aCGH, complex chromosomal rearrangement, congenital abnormalitie, developmental delay, insertional translocation, non-contiguous gains, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33140510; info:eu-repo/semantics/altIdentifier/wos/WOS:000583606100001; numberofpages:12; journal:JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; http://hdl.handle.net/2434/801488Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096748424

الإتاحة: https://doi.org/10.1111/jir.12797Test
http://hdl.handle.net/2434/801488Test

المؤلفون: Iurlo A., Palandri F., Maria Elli E., Cattaneo D., Bucelli C., Sciume M., Vincelli D., Brioschi F., Auteri G., Croci G. A., Guerneri S., Isimbaldi G., Sabattini E., Cortinovis I., Bossi A., Rosti V., Martino B., Baldini L., Gianelli U.

المساهمون: A. Iurlo, F. Palandri, E. Maria Elli, D. Cattaneo, C. Bucelli, M. Sciume, D. Vincelli, F. Brioschi, G. Auteri, G.A. Croci, S. Guerneri, G. Isimbaldi, E. Sabattini, I. Cortinovi, A. Bossi, V. Rosti, B. Martino, L. Baldini, U. Gianelli

مصطلحات موضوعية: bone marrow fibrosi, karyotype, primary myelofibrosi, prognosi, survival, Settore MED/08 - Anatomia Patologica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32979286; info:eu-repo/semantics/altIdentifier/wos/WOS:000574834200001; journal:HEMATOLOGICAL ONCOLOGY; http://hdl.handle.net/2434/793513Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092074621

الإتاحة: https://doi.org/10.1002/hon.2808Test
http://hdl.handle.net/2434/793513Test

المؤلفون: De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O

مصطلحات موضوعية: Original articles

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/44/12/750Test; http://dx.doi.org/10.1136/jmg.2007.052787Test

الإتاحة: https://doi.org/10.1136/jmg.2007.052787Test
http://jmg.bmj.com/cgi/content/short/44/12/750Test

المؤلفون: Bedeschi M. F., Marangi G., Calvello M. R., Ricciardi S., Leone F. P. C., Baccarin M., Guerneri S., Orteschi D., Murdolo M., Lattante S., Frangella S., Keena B., Harr M. H., Zackai E., Zollino M.

المساهمون: Bedeschi, M. F., Marangi, G., Calvello, M. R., Ricciardi, S., Leone, F. P. C., Baccarin, M., Guerneri, S., Orteschi, D., Murdolo, M., Lattante, S., Frangella, S., Keena, B., Harr, M. H., Zackai, E., Zollino, M.

مصطلحات موضوعية: bHLH domain, NLS domain, Pitt-Hopkins syndrome, TCF4

وصف الملف: STAMPA

العلاقة: volume:60; firstpage:565; lastpage:571; numberofpages:7; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11587/499466Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85027398183

الإتاحة: https://doi.org/10.1016/j.ejmg.2017.08.004Test
https://hdl.handle.net/11587/499466Test