S. Amenta

发表

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

E. Kanavakis, C. Sofocleous, H. Fryssira, 2005, Pediatric Research.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene

E. Kanavakis, H. Fryssira, T. Kakourou, 2011, Acta paediatrica.

- Beuren syndrome patients with atypical segmental aneuploidies identify new Two high throughput technologies to detect

C. Howald, A. Reymond, S. Deutsch, 2006 .

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

C. Howald, A. Reymond, S. Antonarakis, 2005, Journal of Medical Genetics.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

S. Bens, C. Kanaka-Gantenbein, C. Sofocleous, 2015, BMC Medical Genetics.

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

D. Zafeiriou, M. Tzetis, K. Giannikou, 2017, Pediatric Research.