Titolo | Pubblicato in | Anno |
---|---|---|
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review | DIAGNOSTICS | 2021 |
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings | EUROPEAN JOURNAL OF MEDICAL GENETICS | 2021 |
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings | FRONTIERS IN NEUROLOGY | 2021 |
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment | EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY | 2021 |
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. | MOLECULAR GENETICS & GENOMIC MEDICINE | 2019 |
© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma