المؤلفون: Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena

المساهمون: Ministerul Cercetării şi Inovării

المصدر: Clinical Case Reports ; volume 9, issue 1, page 314-321 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.3523
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3523
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.3523

المؤلفون: Sofia, Valentina Maria, Da Sacco, Letizia, Surace, Cecilia, Tomaiuolo, Anna Cristina, Genovese, Silvia, Grotta, Simona, Gnazzo, Maria, Petrocchi, Stefano, Ciocca, Laura, Alghisi, Federico, Montemitro, Enza, Martemucci, Luigi, Elce, Ausilia, Lucidi, Vincenzina, Castaldo, Giuseppe, Angioni, Adriano

المصدر: Molecular Medicine ; volume 22, issue 1, page 300-309 ; ISSN 1076-1551 1528-3658

الاتاحة: http://dx.doi.org/10.2119/molmed.2016.00010
http://link.springer.com/content/pdf/10.2119/molmed.2016.00010.pdf
http://link.springer.com/article/10.2119/molmed.2016.00010/fulltext.html
http://www.crossref.org/molmed.2016.00010

المؤلفون: Grotta, Simona, D’Elia, Gemma, Scavelli, Rossana, Genovese, Silvia, Surace, Cecilia, Sirleto, Pietro, Cozza, Raffaele, Romanzo, Antonino, De Ioris, Maria, Valente, Paola, Tomaiuolo, Anna, Lepri, Francesca, Franchin, Tiziana, Ciocca, Laura, Russo, Serena, Locatelli, Franco, Angioni, Adriano

مصطلحات موضوعية: Retinoblastoma, Next-Generation Sequencing, RB1 custom aCGH

Relation: http://www.biomedcentral.com/1471-2407/15/841

الاتاحة: http://www.biomedcentral.com/1471-2407/15/841

المؤلفون: Surace, Cecilia, Berardinelli, Francesco, Masotti, Andrea, Roberti, Maria Cristina, Da Sacco, Letizia, D’Elia, Gemma, Sirleto, Pietro, Digilio, Maria Cristina, Cusmai, Raffaella, Grotta, Simona, Petrocchi, Stefano, Hachem, May El, Pisaneschi, Elisa, Ciocca, Laura, Russo, Serena, Lepri, Francesca Romana, Sgura, Antonella, Angioni, Adriano

المصدر: Epigenetics & Chromatin ; volume 7, issue 1 ; ISSN 1756-8935

الاتاحة: http://dx.doi.org/10.1186/1756-8935-7-1
http://link.springer.com/content/pdf/10.1186/1756-8935-7-1.pdf

المؤلفون: Ciocca, Laura, Surace, Cecilia, Digilio, Maria Cristina, Roberti, Maria Cristina, Sirleto, Pietro, Lombardo, Antonietta, Russo, Serena, Brizi, Valerio, Grotta, Simona, Cini, Claudio, Angioni, Adriano

المصدر: BMC Medical Genomics ; volume 6, issue 1 ; ISSN 1755-8794

الاتاحة: http://dx.doi.org/10.1186/1755-8794-6-3
http://link.springer.com/content/pdf/10.1186/1755-8794-6-3.pdf
http://link.springer.com/article/10.1186/1755-8794-6-3/fulltext.html
http://link.springer.com/content/pdf/10.1186/1755-8794-6-3

المؤلفون: Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena

المصدر: Clinical Case Reports; Jan2021, Vol. 9 Issue 1, p314-321, 8p

مصطلحات موضوعية: PHENOTYPES, LITERATURE reviews, AUTISM, DISABILITIES, INTELLECTUAL disabilities

المؤلفون: Ciocca, Laura, Digilio, M. Cristina, Lombardo, Antonietta, D'Elia, Gemma, Baban, Anwar, Capolino, Rossella, Petrocchi, Stefano, Russo, Serena, Sirleto, Pietro, Roberti, M. Cristina, Marino, Bruno, Angioni, Adriano, Dallapiccola, Bruno

المساهمون: Ciocca, Laura, Digilio, M. Cristina, Lombardo, Antonietta, D'Elia, Gemma, Baban, Anwar, Capolino, Rossella, Petrocchi, Stefano, Russo, Serena, Sirleto, Pietro, Roberti, M. Cristina, Marino, Bruno, Angioni, Adriano, Dallapiccola, Bruno

مصطلحات موضوعية: chromosome 21, congenital heart defect, deletion, hypoplastic left heart, chromosome banding, chromosome breakpoint, chromosome mapping, female, genetic association studie, genetic heterogeneity, human, hypoplastic left heart syndrome, in situ hybridization, fluorescence, ligase chain reaction, phenotype, chromosome deletion, chromosomes, pair 21, genetic, genetics (clinical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/25663264; info:eu-repo/semantics/altIdentifier/wos/WOS:000350283400013; volume:167; issue:3; firstpage:579; lastpage:586; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1193935; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84923005238

الاتاحة: http://hdl.handle.net/11573/1193935
https://doi.org/10.1002/ajmg.a.36914

المؤلفون: Pontrelli, Giuseppe, Cappelletti, Simona, Claps, Dianela, Sirleto, Pietro, Ciocca, Laura, Petrocchi, Stefano, Terracciano, Alessandra, Serino, Domenico, Fusco, Lucia, Vigevano, Federico, Specchio, Nicola

المصدر: Pediatric Neurology ; volume 50, issue 5, page 530-535 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.022
https://api.elsevier.com/content/article/PII:S0887899414000241?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899414000241?httpAccept=text/plain

المؤلفون: Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo, Tang, Chih-Hsin, Viggiano, Emanuela

المصدر: International Journal of Molecular Sciences; Feb2021, Vol. 22 Issue 4, p2106-2106, 1p

مصطلحات موضوعية: ARTHROGRYPOSIS, SHORT stature, RECESSIVE genes, RNA splicing, GENES, GENETIC mutation, ASTIGMATISM

المؤلفون: Silvia Genovese, Anna Cristina Tomaiuolo, Cecilia Surace, Luigi Martemucci, Enza Montemitro, Giuseppe Castaldo, Ausilia Elce, Stefano Petrocchi, Laura Ciocca, Simona Grotta, Letizia Da Sacco, Adriano Angioni, Valentina Maria Sofia, Maria Gnazzo, F. Alghisi, Vincenzina Lucidi

المساهمون: Sofia, Valentina Maria, Da Sacco, Letizia, Surace, Cecilia, Tomaiuolo, Anna Cristina, Genovese, Silvia, Grotta, Simona, Gnazzo, Maria, Petrocchi, Stefano, Ciocca, Laura, Alghisi, Federico, Montemitro, Enza, Martemucci, Luigi, Elce, Ausilia, Lucidi, Vincenzina, Castaldo, Giuseppe, Angioni, Adriano

المصدر: Molecular Medicine, Vol 22, Iss 1, Pp 300-309 (2016)

مصطلحات موضوعية: 0301 basic medicine, pediatrics, Trypsinogen, gastroenterology, Biology, medicine.disease_cause, lcsh:Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, molecular biology, lcsh:QD415-436, Trypsinogen activation, Genetics (clinical), Mutation, Genetic heterogeneity, lcsh:RM1-950, Zymogen granule, medicine.disease, Molecular biology, Phenotype, lcsh:Therapeutics. Pharmacology, 030104 developmental biology, Ion homeostasis, chemistry, inflammation, Molecular Medicine, Pancreatitis, 030211 gastroenterology & hepatology, idiopathic chronic pancreatiti, genetic, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d91e5b65329d4c9e0237a34c71980a
http://hdl.handle.net/11588/668319