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Author
16
Kitsos, G.
11
Grigoriadou, M.
8
Manolakos, E.
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Thomaidis, L.
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Kefalas, K.
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Liehr, T.
5
Orru, S.
5
Papoulidis, I.
5
Psilas, K.
5
Wirtz, M. K.
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*Mutation
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Microsatellite Repeats
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23
journalArticle
Date
7
2010 - 2012
13
2000 - 2009
3
1996 - 1999
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ΑΠΟΘΕΤΗΡΙΟ "ΟΛΥΜΠΙΑΣ"
Σχολή Επιστημών Υγείας
Τμήμα Ιατρικής
Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis (Journal article)
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) (Journal article)
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation (Journal article)
Prevalence of GJB2 mutations in prelingual deafness in the Greek population (Journal article)
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings (Journal article)
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation (Journal article)
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece (Journal article)
Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature (Journal article)
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases (Journal article)
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter (Journal article)