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. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia. Issue 12 (14th September 2015) Authors: Zanni, Ginevra; Kalscheuer, Vera M.; Friedrich, Andreas; Barresi, Sabina; Alfieri, Paolo; Di Capua, Matteo; Haas, Stefan A.; Piccini, Giorgia; Karl, Thomas; Klauck, Sabine M.; Bellacchio, Emanuele; Emma, Francesco; Cappa, Marco; Bertini, Enrico; Breitenbach‐Koller, Lore Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series. (18th May 2021) Authors: Mohn, Angelika; Polidori, Nella; Aiello, Chiara; Rizzo, Cristiano; Giannini, Cosimo; Chiarelli, Francesco; Cappa, Marco Journal: Endocrinology, diabetes & metabolism case reports Issue: (2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autoimmune Thyroid Diseases in Children. (25th October 2010) Authors: Cappa, Marco; Bizzarri, Carla; Crea, Francesca Other Names: Francis Gary L. Academic Editor. Journal: Journal of thyroid research Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Birth weight influences the clinical phenotype and the metabolic control of patients with type 1 diabetes (T1D). Issue 1 (8th January 2013) Authors: Benevento, Danila; Bizzarri, Carla; Patera, Ippolita Patrizia; Ravà, Lucilla; Schiaffini, Riccardo; Ciampalini, Paolo; Cianfarani, Stefano; Cappa, Marco Journal: Diabetes/metabolism research and reviews Issue: Volume 29:Issue 1(2013:Jan.) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Central adrenal insufficiency in young adults with Prader‐Willi Syndrome. (11th May 2013) Authors: Grugni, Graziano; Beccaria, Luciano; Corrias, Andrea; Crinò, Antonino; Cappa, Marco; De Medici, Clotilde; Di Candia, Stefania; Gargantini, Luigi; Ragusa, Letizia; Salvatoni, Alessandro; Sartorio, Alessandro; Spera, Sabrina; Andrulli, Simeone; Chiumello, Giuseppe; Mussa, Alessandro Journal: Clinical endocrinology Issue: Volume 79:Number 3(2013:Sep.) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Central Precocious Puberty: Treatment with Triptorelin 11.25 mg. (3rd May 2012) Authors: Chiocca, Elena; Dati, Eleonora; Baroncelli, Giampiero I.; Cassio, Alessandra; Wasniewska, Malgorzata; Galluzzi, Fiorella; Einaudi, Silvia; Cappa, Marco; Russo, Gianni; Bertelloni, Silvano Other Names: Adrian Thomas E. Academic Editor. Journal: TheScientificWorldjournal Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience. Issue 1 (December 2016) Authors: Bizzarri, Carla; Olivini, Nicole; Pedicelli, Stefania; Marini, Romana; Giannone, Germana; Cambiaso, Paola; Cappa, Marco Journal: Italian journal of pediatrics Issue: Volume 42:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cut-off limits of the peak GH response to stimulation tests for the diagnosis of GH deficiency in children and adolescents: study in patients with organic GHD. Issue 1 (July 2016) Authors: Guzzetti, Chiara; Ibba, Anastasia; Pilia, Sabrina; Beltrami, Nadia; Di Iorgi, Natascia; Rollo, Alessandra; Fratangeli, Nadia; Radetti, Giorgio; Zucchini, Stefano; Maghnie, Mohamad; Cappa, Marco; Loche, Sandro Journal: European journal of endocrinology Issue: Volume 175:Issue 1(2016) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020) Authors: Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Casti... Journal: Lancet Issue: Volume 8:Issue 7(2020) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗