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Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients by Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Rosina Paterra, Giulia Anna Cagnoli, Giulia Melloni, Giulietta Scuvera, Federica Natacci, Claudia Cesaretti, Gaetano Finocchiaro, Marica Eoli
Published 2020-06-01
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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases by Pierpaola Tannorella, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, Milena Mariani, Piergiorgio Modena, Angelo Selicorni, Lidia Larizza, Silvia Russo
Published 2021-04-01
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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in A Large Independent Cohort by Giulia Melloni, Marica Eoli, Claudia Cesaretti, Donatella Bianchessi, Maria Cristina Ibba, Silvia Esposito, Giulietta Scuvera, Guido Morcaldi, Roberto Micheli, Elena Piozzi, Sabrina Avignone, Luisa Chiapparini, Chiara Pantaleoni, Federica Natacci, Gaetano Finocchiaro, and Veronica Saletti
Published 2019-11-01
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