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Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.Ophthalmic Genetics|February 2, 2017
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrierPaolo Maltese, Lucia Ziccardi, Giancarlo Iarossi, et al.Genetic Testing and Molecular Biomarkers|December 21, 2016
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile RetinoschisisAnnalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese, et al.Journal of Biomedicine & Biotechnology|August 28, 2010
Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCRLucia Anna Muscarella, Vito Guarnieri, Michelina Coco, et al.Minerva Endocrinology|May 14, 2021
A simultaneous next-generation sequencing approach to the diagnosis of couple infertilityVincenza Precone, Angelantonio Notarangelo, Giuseppe Marceddu, et al.Neurogenetics|October 18, 2006
Identification of two novel mutations and of a novel critical region in the KRIT1 geneVito Guarnieri, Lucia A Muscarella, Rosina Amoroso, et al.The Journal of Clinical Endocrinology and Metabolism|May 25, 2006
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillanceVito Guarnieri, Alfredo Scillitani, Lucia Anna Muscarella, et al.Neurosurgical Focus|July 25, 2006
Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvementVincenzo Antonio D'Angelo, Costanzo De Bonis, Rosina Amoroso, et al.Epilepsia Open|August 1, 2026
Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathyGiuseppe d'Orsi, Umberto Costantino, Maria Teresa Di Claudio, et al.Clinical Genetics|February 19, 2021
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variantsCarmela Fusco, Grazia Nardella, Antonio Petracca, et al.Pageof 5