Area of research
Molecular Biology · Genetics
Research interest
Research interests include Genetics, Medicine, Genetic counseling, Genetic testing, Phenotype, and Missense mutation.
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
APPLICATION OF NEXT GENERATION TECHNOLOGIES
EP.61DMD gene molecular genetic characterization in Eastern Europe and non European countries
Workload measurement for molecular genetics laboratory: A survey study
NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify dystrophin mutations by NGS technologies
Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapy
Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics project
New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
Genetic Heterogeneity and Human Disease
A three-generation family with terminal microdeletion involving 5p15.33–32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome
Genetic counseling for women referred for advanced maternal age: a telegenetic approach
Downregulation of A1 and A2B adenosine receptors in human trisomy 21 mesenchymal cells from first-trimester chorionic villi