Deletions screening of VHL, SDHB, SDHC and SDHD genes using MLPA technique in pati...
Genetic investigation and genotype-phenotype correlation in the von-Hippel Lindau ...
Evaluation of Targeted Rescue Therapy of Polycystin-1 Missense Mutations in ADPKD ...
Assessment of the penetrance of mutations/deletions in the SDHB and SDHD genes
Analysis of DICER1 gene in pediatric and adult adrenocortical tumors
Analysis of DICER1 gene in pediatric and adult adrenocortical tumors
Identification of novel mutations on RET gene exon 8 in cases of MTC and pheocromo...