1. A STAG3 missense mutation in two sisters with primary ovarian insufficiency. (September 2017) Authors: Colombo, Roberto; Pontoglio, Alessandro; Bini, Maurizio Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 216(2017) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization and outcome of 41 patients with beta‐ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. Issue 3 (20th February 2017) Authors: Nguyen, Khanh Ngoc; Abdelkreem, Elsayed; Colombo, Roberto; Hasegawa, Yuki; Can, Ngoc Thi Bich; Bui, Thao Phuong; Le, Hai Thanh; Tran, Mai Thi Chi; Nguyen, Hoan Thi; Trinh, Hung Thanh; Aoyama, Yuka; Sasai, Hideo; Yamaguchi, Seiji; Fukao, Toshiyuki; Vu, Dung Chi Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017) Authors: Wortmann, Saskia B.; Chen, Margaret A.; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D.; Yuzyuk, Tatiana; Coughlin, Curtis R.; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B.; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, L... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Plasma levels of vasostatin-1, a chromogranin A fragment, are associated with carotid artery maximum stenosis: A pilot study. (1st June 2017) Authors: Bachetti, Tiziana; Ferrari Bardile, Alberto; Aloi, Teresa Lucia; Colombo, Barbara; Assi, Emma; Savino, Giuseppina; Vercelli, Andrea; Colombo, Roberto; Corti, Angelo Journal: International journal of cardiology Issue: Volume 236(2017) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017) Authors: Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F... Journal: Annals of neurology Issue: Volume 82:Issue 6(2017) Page Start: 1004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. TLR2 polymorphism and susceptibility to vulvovaginal colonisation by Candida species. (3rd April 2017) Authors: Colombo, Roberto; Boccia, Stefania; Ricciardi, Walter; Canino, Antonio Journal: Journal of obstetrics and gynaecology Issue: Volume 37:Number 3(2017) Page Start: 404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗