1. An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs. (9th April 2015) Authors: Barone, Chiara; Novelli, Antonio; Capalbo, Anna; del Grano, Antonella Cataliotti; Giuffrida, Maria Grazia; Indaco, Lara; Bianca, Sebastiano Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects. Issue 3 (24th May 2021) Authors: Guida, Valentina; Sparascio, Francesca Piceci; Bernardini, Laura; Pancheri, Francesco; Melis, Daniela; Cocciadiferro, Dario; Pagnoni, Mario; Puzzo, Marianna; Goldoni, Marina; Barone, Chiara; Hozhabri, Hossein; Putotto, Carolina; Giuffrida, Maria Grazia; Briuglia, Silvana; Palumbo, Orazio; Bianca,... Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. Issue 8 (14th April 2014) Authors: Di Benedetto, Daniela; Musumeci, Sebastiano Antonino; Avola, Emanuela; Alberti, Antonino; Buono, Serafino; Scuderi, Carmela; Grillo, Lucia; Galesi, Ornella; Spalletta, Angela; Giudice, Mariangela Lo; Luciano, Daniela; Vinci, Mirella; Bianca, Sebastiano; Romano, Corrado; Fichera, Marco Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. Issue 4 (20th February 2020) Authors: Agolini, Emanuele; Cherchi, Claudio; Bellacchio, Emanuele; Martinelli, Diego; Cocciadiferro, Dario; Cutrera, Renato; Chiarini Testa, Maria B.; Barone, Chiara; Bianca, Sebastiano; Novelli, Antonio Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fraser Syndrome: Epidemiological Study in a European Population. Issue 5 (26th March 2013) Authors: Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie‐Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Boyd, Patricia A.; Draper, Elizabeth S; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Latos‐Bielenska, A... Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1012 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems. Issue 6 (23rd April 2013) Authors: Barone, Chiara; Bianca, Sebastiano; Luciano, Daniela; Di Benedetto, Daniela; Vinci, Mirella; Fichera, Marco Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia. (August 2014) Authors: Barone, Chiara; Bartoloni, Giovanni; Baffico, A. Maria; Pappalardo, Elisa; Mura, Isabella; Ettore, Giuseppe; Bianca, Sebastiano Journal: Congenital anomalies Issue: Volume 54:Number 3(2014:Sep.) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (13th March 2015) Authors: Caciotti, Anna; Tonin, Rodolfo; Rigoldi, Miriam; Ferri, Lorenzo; Catarzi, Serena; Cavicchi, Catia; Procopio, Elena; Donati, Maria Alice; Ficcadenti, Anna; Fiumara, Agata; Barone, Rita; Garavelli, Livia; Rocco, Maja Di; Filocamo, Mirella; Antuzzi, Daniela; Scarpa, Maurizio; Mooney, Sean D.; Li, Bi... Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (March 2015) Authors: Caciotti, Anna; Tonin, Rodolfo; Rigoldi, Miriam; Ferri, Lorenzo; Catarzi, Serena; Cavicchi, Catia; Procopio, Elena; Donati, Maria Alice; Ficcadenti, Anna; Fiumara, Agata; Barone, Rita; Garavelli, Livia; Rocco, Maja Di; Filocamo, Mirella; Antuzzi, Daniela; Scarpa, Maurizio; Mooney, Sean D.; Li, Bi... Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗