Marc Nicolino
Hôpital Femme Mère Enfant(FR)Hospices Civils de Lyon(FR)
Publications by Year
Research Areas
Pancreatic function and diabetes, Diabetes Management and Research, Diabetes and associated disorders, Sexual Differentiation and Disorders, Growth Hormone and Insulin-like Growth Factors
Most-Cited Works
- → The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome(2001)974 cited
- → EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome(2000)816 cited
- → Recombinant human acid α-glucosidase(2006)762 cited
- → Pompe disease diagnosis and management guideline(2006)619 cited
- → A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease(2006)580 cited
- → Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism(2006)376 cited