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Author/Creator Lanciotti, Silvia

1. A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome. Issue 9 (8th September 2018)

Authors:
Castori, Marco; Ott, Claus‐Eric; Bisceglia, Luigi; Leone, Maria Pia; Mazza, Tommaso; Castellana, Stefano; Tomassi, Jurgen; Lanciotti, Silvia; Mundlos, Stefan; Hennekam, Raoul C.; Kornak, Uwe; Brancati, Francesco
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
2028
Record Type:
Journal Article
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2. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes. Issue 3 (17th June 2019)

Authors:
Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann‐Josef; Guida, Valentina; Krumbiegel, Mand...
Journal:
Clinical genetics
Issue:
Volume 96:Issue 3(2019)
Page Start:
246
Record Type:
Journal Article
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5. Tremor is a major feature of 9p13 deletion syndrome. Issue 11 (8th September 2020)

Authors:
Ferreira, Susana Isabel; Cinnirella, Giacomo; Ramos, Lina; Suppa, Antonio; Pires, Luís Miguel; Nardone, Anna Maria; Camerota, Letizia; Lanciotti, Silvia; Galasso, Cinzia; De Maio, Fernando; de Melo, Joana Barbosa; Carreira, Isabel Marques; Brancati, Francesco
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2694
Record Type:
Journal Article
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