Associated Papers
Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.
Liu J et al.
Bmc Pregnancy and Childbirth, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
40579409 (PubMed )
Supplement: 41598_2025_4718_MOESM1_ESM.xlsx › Foglio1
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.
Pompili G et al.
European Journal of Radiology, 2009
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