Luisa De Sanctis

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Jesús Purroy, F. Rousaud et al. · Nature Genetics · 1999 · 335 citations

Medicine, Genetics, Molecular Genetics +4

Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

Luca Dello Strologo, Elon Pras, C. Pontesilli et al. · Journal of the American Society of Nephrology · 2002 · 278 citations

Medicine, Genetics, Molecular Genetics +16

<i>SOX2</i> anophthalmia syndrome

Nicola Ragge, Birgit Lorenz, Adele Schneider et al. · American Journal of Medical Genetics Part A · 2005 · 228 citations

Medicine, Ophthalmology, Vision Science +15

Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?

Ivana Rabbone, Riccardo Schiaffini, Valentino Cherubini et al. · Diabetes Care · 2020 · 222 citations · Full text

Medicine, Internal Medicine, Pediatrics +13

Pseudohypoparathyroidism and<i>GNAS</i>Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

Giovanna Mantovani, Luisa De Sanctis, Anna Maria Barbieri et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 148 citations · Full text

Medicine, Endocrinology, Genetics +16