1. A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature. Issue 1 (9th March 2022) Authors: Torraco, Alessandra; Morlino, Silvia; Rizza, Teresa; Di Nottia, Michela; Bottaro, Giorgia; Bisceglia, Luigi; Montanari, Arianna; Cappa, Marco; Castori, Marco; Bertini, Enrico; Carrozzo, Rosalba Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An Additional Patient With 3q27.3 Microdeletion Syndrome. (March 2015) Authors: Castori, Marco; Bottillo, Irene; Laino, Luigi; Morlino, Silvia; Grammatico, Barbara; Grammatico, Paola Journal: Journal of child neurology Issue: Volume 30:Number 4(2015:Mar.) Page Start: 500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2. Issue 5 (1st March 2019) Authors: Guarnieri, Vito; Morlino, Silvia; Di Stolfo, Giuseppe; Mastroianno, Sandra; Mazza, Tommaso; Castori, Marco Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome. Issue 4 (13th January 2021) Authors: Majore, Silvia; Agolini, Emanuele; Micale, Lucia; Pascolini, Giulia; Zuppi, Paolo; Cocciadiferro, Dario; Morlino, Silvia; Mattiuzzo, Matteo; Valiante, Michele; Castori, Marco; Novelli, Antonio; Grammatico, Paola Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain. (5th February 2015) Authors: Castori, Marco; Morlino, Silvia; Ghibellini, Giulia; Celletti, Claudia; Camerota, Filippo; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 169:Number 1(2015:Jan.) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Craniosynostosis is a feature of CHD7‐related CHARGE syndrome. Issue 7 (12th April 2021) Authors: De Luca, Chiara; Picone, Simonetta; Cassina, Matteo; Marziali, Simone; Morlino, Silvia; Camerota, Letizia; Tamburrini, Gianpiero; Castori, Marco; Paolillo, Piermichele; Salviati, Leonardo; Brancati, Francesco Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. Issue 1 (14th October 2016) Authors: Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021) Authors: Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D... Journal: Seizure Issue: Volume 88(2021) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder. Issue 6 (2nd August 2018) Authors: Piedimonte, Caterina; Penge, Roberta; Morlino, Silvia; Sperduti, Isabella; Terzani, Andrea; Giannini, Maria Teresa; Colombi, Marina; Grammatico, Paola; Cardona, Francesco; Castori, Marco Journal: American journal of medical genetics Issue: Volume 177:Issue 6(2018) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type. (March 2015) Authors: Castori, Marco; Morlino, Silvia; Pascolini, Giulia; Blundo, Carlo; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 169:Number 1(2015:Jan.) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗