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

Andrea Del Fattore, Barbara Peruzzi, Nadia Rucci, +25

Journal of Medical Genetics

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

Periklis Makrythanasis, Mari Nelis, Federico Santoni, +32

Human Mutation

Array CghRare DiseasesMendelian DisorderGenetic DisorderExome Sequencing +13

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman, +58

Human Mutation

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

V Touliatou, Helen Fryssira, Ariadni Mavrou, +2

PubMed

Developmental AnomalyThumb HypoplasiaClinical FindingAutoimmune DiseaseOphthalmology +13

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

P. Sakellariou, Kyriaki Kekou, Helen Fryssira, +5

Neuromuscular Disorders

Mutation SpectrumMendelian DisorderGenetic DisorderGeneticsPathology +3

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

Nikolaos M. Marinakis, Maria Svingou, Danai Veltra, +7

American Journal of Medical Genetics Part A

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

Stella Amenta, Christalena Sofocleous, A Kolialexi, +7

Pediatric Research

Molecular InvestigationMendelian DisorderGreek PopulationGenetic DisorderPathology +4

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease

Areti Syrmou, Maria Tzetis, Helen Fryssira, +5

Pediatric Research

Genetic AnalysisEngineeringHybridizationGeneticsMedicine +9

Tumor development in three patients with Noonan syndrome

Helen Fryssira, Stavroula Psoni, Sophia Kitsiou‐Tzeli, +2

European Journal of Pediatrics

Tumoral PathologyMedicineTumor DevelopmentHistopathologyPathology +1

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Marie Morimoto, Olivia Kérourédan, M. Gendronneau, +33

Journal of Dental Research

GeneticsPathologyOral MedicineSiod PatientsOdontology +15