Browsing Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. by Author "Zuffardi, O."

Now showing items 1-3 of 3

Deletion 2q31.2-q31.3 in a 4-Year-Old Girl With Microcephaly and Severe Mental Retardation

Manolakos, E.; Vetro, A.; Kefalas, K.; Thomaidis, L.; Aperis, G.; Sotiriou, S.; Kitsos, G.; Merkas, M.; Sifakis, S.; Papoulidis, I.; Liehr, T.; Zuffardi, O.; Petersen, M. B. (2011)
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Sifakis, S.; Manolakos, E.; Vetro, A.; Kappou, D.; Peitsidis, P.; Kontodiou, M.; Garas, A.; Vrachnis, N.; Konstandinidou, A.; Zuffardi, O.; Orru, S.; Papoulidis, I. (2012)

Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of ...
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Manolakos, E.; Vetro, A.; Garas, A.; Thomaidis, L.; Kefalas, K.; Kitsos, G.; Ziegler, M.; Liehr, T.; Zuffardi, O.; Papoulidis, I. (2014)

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common ...

Browse