Pubblicazioni

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

2017 - EUROPEAN JOURNAL OF HUMAN GENETICS

Youssefian, L; Vahidnezhad, H; Saeidian, Ah; Sotoudeh, S; Mahmoudi, H; Daneshpazhooh, M; Aghazadeh, N; Adams, R; Ghanadan, A; Zeinali, S; Fortina, P; Uitto, J.

Targeted Next Generation Sequencing in patients with Myotonia Congenita

2017 - CLINICA CHIMICA ACTA

Ferradini, V.; Cassone, M.; Nuovo, S.; Bagni, I.; D'Apice, M. R.; Botta, A.; Novelli, G.; Sangiuolo, F.

A meta-analysis of somatic KCNJ5 K<sup>+</sup> channel mutations in 1636 patients with an aldosterone-producing adenoma

2015 - THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

Lenzini, Livia; Rossitto, Giacomo; Maiolino, Giuseppe; Letizia, Claudio; Funder, John W.; Rossi, Gian Paolo