Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Tekijä Cirello, Valentina, Giorgini, Valentina, Castronovo, Chiara, Marelli, Susan, Mainini, Ester, Sironi, Alessandra, Recalcati, Maria Paola, Pessina, Marco, Giardino, Daniela, Larizza, Lidia, Persani, Luca, Finelli, Palma, Russo, Silvia, Fugazzola, Laura
Julkaisussa Front Genet (2018)

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Tekijä Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia
Julkaisussa Int J Mol Sci (2019)