نتائج البحث - "Caterina Ceccarini"

المساهمون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

مصطلحات موضوعية: cfDNAtesting, Obstetrics and Gynecology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edbTest
https://hdl.handle.net/11368/3035240Test

6

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, detection rate, medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Developmental Disabilities, Genetics, Medical, 030105 genetics & heredity, Sensitivity and Specificity, Chromosomal microarray analysis (CMA), pathogenic CNV, 03 medical and health sciences, clinical marker identification, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Molecular Biology, Societies, Medical, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, business.industry, Microarray analysis techniques, Retrospective cohort study, Congenital malformations, Original Articles, Phenotype, Human genetics, lcsh:Genetics, 030104 developmental biology, Italy, Practice Guidelines as Topic, Original Article, Detection rate, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45Test
https://doi.org/10.1002/mgg3.1056Test

7

Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

المؤلفون: Maria Grazia Gallicchio, Caterina Ceccarini, Carla Cesarano, Nenad Bukvic, Marianna Bruno, Maria Rosaria Lipsi, Lucia Valente, Raffaele Antonetti, Giulia Cotoia, Maria Assunta Carboni

المصدر: Gene, 513, 111-7
Gene, 513, 1, pp. 111-7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb3f198d2a319901e8f8d51ae4e15733Test
https://hdl.handle.net/2066/118127Test

8

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

المؤلفون: Caterina Ceccarini, Bruno Dallapiccola, D Zuccarello, Rita Mingarelli, M. C. Digilio, Antonio Novelli, Laura Bernardini

المصدر: Cytogenetic and Genome Research. 111:182-185

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8211553690eeb91a8d83287fce20beb3Test
https://doi.org/10.1159/000086391Test

9

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

المؤلفون: Daniela Zuccarello, M. C. Digilio, Antonio Novelli, Bruno Dallapiccola, Viviana Caputo, Rita Mingarelli, Laura Bernardini, Caterina Ceccarini

المصدر: Clinical Genetics. 66:30-38

مصطلحات موضوعية: Genetics, medicine.diagnostic_test, Chromosome, Karyotype, Biology, Subtelomere, medicine.disease, Telomere, Developmental disorder, Cohort, medicine, Homologous chromosome, Genetics (clinical), Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbb3ee3cf69da6874fd83916e7cb7079Test
https://doi.org/10.1111/j.0009-9163.2004.00270.xTest

10

دورية أكاديمية

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

المؤلفون: Alessandro De Luca, Laura Bernardini, Caterina Ceccarini, Lorenzo Sinibaldi, Antonio Novelli, I. Daniele, Rita Mingarelli, GIUSTINI, Sandra, CALVIERI, Stefano

المساهمون: Alessandro De, Luca, Laura, Bernardini, Caterina, Ceccarini, Lorenzo, Sinibaldi, Antonio, Novelli, Giustini, Sandra, I., Daniele, Calvieri, Stefano, Rita, Mingarelli

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15066327; info:eu-repo/semantics/altIdentifier/wos/WOS:000221025300011; volume:150; issue:2; firstpage:168; lastpage:172; numberofpages:5; journal:CANCER GENETICS AND CYTOGENETICS; http://hdl.handle.net/11573/362630Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-1842506361; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000221025300011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-1842506361&partnerID=65&md5=7cc5764e03df476ff0b43b4afc544c48Test

الإتاحة: https://doi.org/10.1016/j.cancergencyto.2003.09.001Test
http://hdl.handle.net/11573/362630Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000221025300011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-1842506361&partnerID=65&md5=7cc5764e03df476ff0b43b4afc544c48Test

View record in BASE

تنقيح النتائج