Silvia Di Tommaso
4PUBLICATIONS
10CO-AUTHORS
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Publications (4)
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|May 27, 2023
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.Viola Alesi, Silvia Genovese, Francesca Romana Lepri
|Nov 11, 2022
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.Valeria Orlando, Silvia Di Tommaso, Viola Alesi
|Jan 16, 2021
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.Viola Alesi, Maria Lisa Dentici, Silvia Genovese
|Jan 07, 2021
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.Valeria Orlando, Viola Alesi, Gianluca Di Giacomo
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Frequent Collaborators
4 joint publications
Antonio Novelli
3 joint publications
Valeria Orlando
3 joint publications
Viola Alesi
3 joint publications
Sara Loddo
2 joint publications
Maria Lisa Dentici
1 joint publications
Marcello Niceta
1 joint publications
Bruno Dallapiccola
1 joint publications
Emanuele Bellacchio
1 joint publications
Marina Trivisano
1 joint publications
Nicola Specchio
