المؤلفون: Brusco, Alfredo, Gellera, Cinzia, Cagnoli, Claudia, Saluto, Alessandro, Castucci, Alessia, Michielotto, Chiara, Fetoni, Vincenza, Mariotti, Caterina, Migone, Nicola, Di Donato, Stefano, Taroni, Franco

المصدر: Archives of Neurology ; volume 61, issue 5, page 727 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneur.61.5.727
http://jamanetwork.com/journals/jamaneurology/fullarticle/785821

المؤلفون: SALUTO, Alessandro, BRUSSINO, Alessandro, TASSONE, Flora, ARDUINO, Carlo, CAGNOLI, CLAUDIA, PAPPI, Patrizia, HAGERMAN P, MIGONE, Nicola, BRUSCO, Alfredo

المساهمون: Saluto, Alessandro, Brussino, Alessandro, Tassone, Flora, Arduino, Carlo, Cagnoli, Claudia, Pappi, Patrizia, Hagerman, P, Migone, Nicola, Brusco, Alfredo

مصطلحات موضوعية: Fragile X mental retardation, FMR1 gene, STR-PCR, genetic diagnosi, repeat disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/16258159; info:eu-repo/semantics/altIdentifier/wos/WOS:000232873500008; volume:7; issue:5; firstpage:605; lastpage:612; numberofpages:8; journal:THE JOURNAL OF MOLECULAR DIAGNOSTICS; https://hdl.handle.net/2318/38703; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27744591518; https://linkinghub.elsevier.com/retrieve/pii/S1525-1578(10)60594-6

الاتاحة: https://hdl.handle.net/2318/38703
https://doi.org/10.1016/S1525-1578(10)60594-6
https://linkinghub.elsevier.com/retrieve/pii/S1525-1578(10)60594-6

المؤلفون: SAVIOZZI, Silvia, SALUTO, Alessandro, PIANE, Maria, PRUDENTE, Sabrina, MIGONE, Nicola, DE MARCHI, Mario, BRUSCO, Alfredo, CHESSA, Luciana

المساهمون: Saviozzi, Silvia, Saluto, Alessandro, Piane, Maria, Prudente, Sabrina, Migone, Nicola, DE MARCHI, Mario, Brusco, Alfredo, Chessa, Luciana

مصطلحات موضوعية: ATM, PTT, mutation detection, Ataxia Telangiectasia, Italian

Relation: info:eu-repo/semantics/altIdentifier/pmid/12655570; info:eu-repo/semantics/altIdentifier/wos/WOS:000394376200046; volume:21; firstpage:e450; lastpage:e454; numberofpages:5; journal:HUMAN MUTATION; http://hdl.handle.net/2318/29064; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0037390910; http://www3.interscience.wiley.com/cgi-bin/fulltext/104084448/PDFSTART

الاتاحة: http://hdl.handle.net/2318/29064
https://doi.org/10.1002/humu.9129
http://www3.interscience.wiley.com/cgi-bin/fulltext/104084448/PDFSTART

المؤلفون: SAVIOZZI, Silvia, SALUTO, Alessandro, TAYLOR, AMR, LAST, JIL, TREBINI, F, PARADISO, MC, GROSSO, Enrico, FUNARO, Ada, PONZIO, Giorgio, MIGONE, Nicola, BRUSCO, Alfredo

المساهمون: Saviozzi, Silvia, Saluto, Alessandro, Taylor, Amr, Last, Jil, Trebini, F, Paradiso, Mc, Grosso, Enrico, Funaro, Ada, Ponzio, Giorgio, Migone, Nicola, Brusco, Alfredo

مصطلحات موضوعية: ATM, ataxia-telangiectasia variant, mutation analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/11826028; info:eu-repo/semantics/altIdentifier/wos/WOS:000173274300013; volume:39; firstpage:57; lastpage:61; numberofpages:5; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2318/39454; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-18244405365; http://jmg.bmj.com/cgi/reprint/39/1/57

الاتاحة: http://hdl.handle.net/2318/39454
http://jmg.bmj.com/cgi/reprint/39/1/57

المؤلفون: Longa, Lucia, Saluto, Alessandro, Brusco, Alfredo, Polidoro, Silvia, Padovan, Sergio, Allavena, Anna, Carbonara, Caterina, Grosso, Enrico, Migone, Nicola

المصدر: Human Genetics ; volume 108, issue 2, page 156-166 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s004390100460
http://link.springer.com/content/pdf/10.1007/s004390100460.pdf
http://link.springer.com/article/10.1007/s004390100460/fulltext.html
http://link.springer.com/content/pdf/10.1007/s004390100460

المؤلفون: Saluto, Alessandro, Brussino, Alessandro, Tassone, Flora, Arduino, Carlo, Cagnoli, Claudia, Pappi, Patrizia, Hagerman, Paul, Migone, Nicola, Brusco, Alfredo

المصدر: The Journal of Molecular Diagnostics; November 2005, Vol. 7 Issue: 5 p605-612, 8p