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Author/Creator Di Tommaso, Silvia

1. 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision. Issue 3 (13th December 2021)

Authors:
Cicenia, Marianna; Alesi, Viola; Orlando, Valeria; Magliozzi, Monia; Di Tommaso, Silvia; Iodice, Francesca G.; Pompei, Emanuela; Toscano, Alessandra; Digilio, Maria C.; Drago, Fabrizio; Novelli, Antonio; Baban, Anwar
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
883
Record Type:
Journal Article
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2. Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile. Issue 1 (24th October 2020)

Authors:
Alesi, Viola; Loddo, Sara; Orlando, Valeria; Genovese, Silvia; Di Tommaso, Silvia; Liambo, Maria Teresa; Pompili, Daniele; Ferretti, Daniele; Calacci, Chiara; Catino, Giorgia; Falasca, Roberto; Dentici, Maria Lisa; Novelli, Antonio; Digilio, Maria Cristina; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
242
Record Type:
Journal Article
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3. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022)

Authors:
Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2958
Record Type:
Journal Article
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4. PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review. Issue 12 (27th September 2020)

Authors:
Loddo, Sara; Alesi, Viola; Radio, Francesca Clementina; Genovese, Silvia; Di Tommaso, Silvia; Calvieri, Giusy; Orlando, Valeria; Bertini, Enrico; Dentici, Maria Lisa; Novelli, Antonio; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 12(2020)
Page Start:
3014
Record Type:
Journal Article
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5. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. Issue 6 (3rd March 2022)

Authors:
Catino, Giorgia; Genovese, Silvia; Di Tommaso, Silvia; Orlando, Valeria; Petti, Maria Teresa; De Bernardi, Margherita Lucia; Dallapiccola, Bruno; Novelli, Antonio; Ulgheri, Lucia; Piscopo, Carmelo; Alesi, Viola
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 6(2022)
Page Start:
1836
Record Type:
Journal Article
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7. The "Special" crystal-Stellate System in Drosophila melanogaster Reveals Mechanisms Underlying piRNA Pathway-Mediated Canalization. (15th December 2011)

Authors:
Bozzetti, Maria Pia; Fanti, Laura; Di Tommaso, Silvia; Piacentini, Lucia; Berloco, Maria; Tritto, Patrizia; Specchia, Valeria
Other Names:
Meller Victoria H. Academic Editor.
Journal:
Genetics research international
Issue:
Volume 2012(2012)
Page Start:
Record Type:
Journal Article
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