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Author/Creator Oppo, Manuela

1. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. (21st May 2015)

Authors:
Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti‐Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; ...
Journal:
Journal of bone and mineral research
Issue:
Volume 30:Number 10(2015:Oct.)
Page Start:
1814
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. (21st May 2015)

Authors:
Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti‐Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; ...
Journal:
Journal of bone and mineral research
Issue:
Volume 30:Number 10(2015:Oct.)
Page Start:
1814
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019)

Authors:
Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 4(2019)
Page Start:
634
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019)

Authors:
Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
607
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗