Luisa De Sanctis

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

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

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 · 277 citations

<i>SOX2</i> anophthalmia syndrome

Nicola Ragge, Birgit Lorenz, Adele Schneider et al. · American Journal of Medical Genetics Part A · 2005 · 225 citations

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 · 146 citations · Full text

Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches

Andrea Corrias, S. Einaudi, E Chiorboli et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 144 citations · Full text