Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation
| dc.contributor.author | Manolakos, E. | en |
| dc.contributor.author | Vetro, A. | en |
| dc.contributor.author | Kefalas, K. | en |
| dc.contributor.author | Thomaidis, L. | en |
| dc.contributor.author | Aperis, G. | en |
| dc.contributor.author | Sotiriou, S. | en |
| dc.contributor.author | Kitsos, G. | en |
| dc.contributor.author | Merkas, M. | en |
| dc.contributor.author | Sifakis, S. | en |
| dc.contributor.author | Papoulidis, I. | en |
| dc.contributor.author | Liehr, T. | en |
| dc.contributor.author | Zuffardi, O. | en |
| dc.contributor.author | Petersen, M. B. | en |
| dc.date.accessioned | 2015-11-24T19:25:16Z | |
| dc.date.available | 2015-11-24T19:25:16Z | |
| dc.identifier.issn | 1552-4833 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/22597 | |
| dc.rights | Default Licence | - |
| dc.subject | Abnormalities, Multiple/genetics/*pathology | en |
| dc.subject | Child, Preschool | en |
| dc.subject | *Chromosome Deletion | en |
| dc.subject | Chromosomes, Human, Pair 2/*genetics | en |
| dc.subject | Comparative Genomic Hybridization | en |
| dc.subject | Female | en |
| dc.subject | Humans | en |
| dc.subject | In Situ Hybridization, Fluorescence | en |
| dc.subject | Intellectual Disability/genetics/*pathology | en |
| dc.subject | Karyotyping | en |
| dc.subject | Microcephaly/genetics/*pathology | en |
| dc.subject | *Phenotype | en |
| dc.title | Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1002/ajmg.a.33981 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/21567918 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.33981/asset/33981_ftp.pdf?v=1&t=h09ozav2&s=86c1230a7f690343de9adfce0cfa13023d88cf7e | - |
| heal.journalName | Am J Med Genet A | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2011 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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