H. Frysira

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2012, Gene.

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

J. Traeger-Synodinos, A. Kolialexi, M. Gavra, 2019, The application of clinical genetics.

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

R. Wevers, C. Jakobs, M. Spilioti, 2013, Front. Hum. Neurosci..

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization

S. Kitsiou‐Tzeli, M. Tzetis, E. Kanavakis, 2012, Expert review of molecular diagnostics.

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

M. Tzetis, A. Kattamis, K. Kosma, 2019, Postgraduate medicine.

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years

G. Chrousos, C. Kanaka-Gantenbein, L. Thomaidis, 2017, Journal of pediatric endocrinology & metabolism : JPEM.