المؤلفون: Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria

المساهمون: Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria

مصطلحات موضوعية: neonatal diseases and abnormalities, cerebellar diseases, congenital, genetics, genotype, hereditary, medical, phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34085948; info:eu-repo/semantics/altIdentifier/wos/WOS:000728642300001; volume:59; issue:4; firstpage:399; lastpage:409; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11562/1044699Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102197986; https://doi.org/10.1136/jmedgenet-2020-107497Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107497Test
http://hdl.handle.net/11562/1044699Test

المؤلفون: Tassano, Elisa, MIRABELLI BADENIER, MARISOL ELENA, VENESELLI, EDVIGE MARIA, PULITI, ALDAMARIA, Lerone, Margherita, Vaccari, Carlotta Maria, MORANA, GIOVANNI, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina

المساهمون: Tassano, Elisa, MIRABELLI BADENIER, MARISOL ELENA, VENESELLI, EDVIGE MARIA, PULITI, ALDAMARIA, Lerone, Margherita, Vaccari, Carlotta Maria, MORANA, GIOVANNI, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina

مصطلحات موضوعية: Interstitial deletion, 6q21q22.1, Array-CGH, Karyotype/phenotype correlation, Poland syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26052347; info:eu-repo/semantics/altIdentifier/wos/WOS:000362068100001; volume:8; firstpage:31; lastpage:36; numberofpages:6; journal:MOLECULAR CYTOGENETICS; http://hdl.handle.net/2318/1751584Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930674123

الإتاحة: https://doi.org/10.1186/s13039-015-0134-7Test
http://hdl.handle.net/2318/1751584Test

المؤلفون: Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

المصدر: Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; ....

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest; info:pmid/26026149; urn:issn:2050-084X

الإتاحة: https://doi.org/10.5167/uzh-12102010.7554/eLife.06602Test
https://www.zora.uzh.ch/id/eprint/121020Test/
https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest

المؤلفون: Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria

المساهمون: Ministero dell'Istruzione, dell'Università e della Ricerca, Fondazione Pierfranco e Luisa Mariani, H2020 European Research Council, Ministero della Salute

المصدر: Journal of Medical Genetics ; volume 59, issue 4, page 399-409 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107497Test

المؤلفون: Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa

المصدر: Molecular Cytogenetics ; volume 7, issue 1 ; ISSN 1755-8166

مصطلحات موضوعية: Biochemistry (medical), Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine, Biochemistry

الإتاحة: https://doi.org/10.1186/s13039-014-0054-yTest

المؤلفون: Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio

المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 93 (2012)

مصطلحات موضوعية: Familial 17p13.3 duplication syndrome, PAFAH1B1 and YWHAE genes, Array-CGH, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/13/93Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/4e02792d75dd45e6a9ae1c49a85e9415Test

الإتاحة: https://doi.org/10.1186/1471-2350-13-93Test
https://doaj.org/article/4e02792d75dd45e6a9ae1c49a85e9415Test

المؤلفون: Mirabelli‐Badenier, Marisol, Braunersreuther, Vincent, Lenglet, Sébastien, Galan, Katia, Veneselli, Edvige, Viviani, Giorgio L., Mach, François, Montecucco, Fabrizio

المصدر: European Journal of Clinical Investigation ; volume 42, issue 7, page 784-794 ; ISSN 0014-2972 1365-2362

الإتاحة: https://doi.org/10.1111/j.1365-2362.2012.02640.xTest

المؤلفون: Mirabelli-Badenier, Marisol, Morana, Giovanni, Pinto, Francesca, Uccelli, Antonio, Veneselli, Edvige, Battaglia, Francesca Maria, Biancheri, Roberta, Baglietto, Maria Giuseppina, Vincent, Angela, Mancardi, Maria Margherita

المصدر: Archives of Neurology ; volume 69, issue 8 ; ISSN 0003-9942

الإتاحة: https://doi.org/10.1001/archneurol.2012.234Test
http://jamanetwork.com/journals/jamaneurology/fullarticle/1151849Test

المؤلفون: Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio

المصدر: Orphanet Journal of Rare Diseases ; volume 6, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/1750-1172-6-12Test

المؤلفون: Brandsma, R., Verschuuren-Bemelmans, Corien C.C., Amrom, Dina, Barisic, N., Baxter, Peter Stuart P., Bertini, Enrico, Blumkin, Lubov, Brankovic-Sreckovic, Vesna, Brouwer, Oebele O.F., Bürk, Katrin, Catsman-Berrevoets, Coriene, Craiu, Dana, de Coo, Irenaeus I.F.M., Gburek, J., Kennedy, Colin, de Koning, Tom T.J., Kremer, Hannie H.P.H., Kumar, Ram, Macaya, Alfons, Micalizzi, Alessia, Mirabelli-Badenier, Marisol, Nemeth, Andrea, Nuovo, Sara, Poll-The, Bwee Tien T B.T., Lerman-Sagie, Tally, Steinlin, Maja, Synofzik, Matthis, Tijssen, M.A.J., Vasco, Gessica, Willemsen, Michèl Aap, Zanni, Ginevra, Valente, Enza Maria, Boltshauser, Eugen, Sival, D.A.

المصدر: European journal of paediatric neurology, 23 (5

مصطلحات موضوعية: Neurologie, Pédiatrie, Algorithm, Cerebellum, Child, Diagnosis, Early Onset Ataxia, NGS techniques

وصف الملف: No full-text files

العلاقة: uri/info:doi/10.1016/j.ejpn.2019.08.004; uri/info:pii/S1090379819300273; uri/info:pmid/31481303; uri/info:scp/85071490568; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/297115Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/297115Test