Helen Fryssira

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment

Andrea Del Fattore, Barbara Peruzzi, Nadia Rucci et al. · Journal of Medical Genetics · 2005 · 182 citations · Full text

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 85 citations

Array Cgh, Rare Diseases, Mendelian Disorder +15

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman et al. · Human Mutation · 2006 · 64 citations · Full text

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

V Touliatou, Helen Fryssira, Ariadni Mavrou et al. · PubMed · 2006 · 61 citations

Developmental Anomaly, Thumb Hypoplasia, Clinical Finding +15

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

P. Sakellariou, Kyriaki Kekou, Helen Fryssira et al. · Neuromuscular Disorders · 2012 · 50 citations

Mutation Spectrum, Mendelian Disorder, Genetic Disorder +5