BRAT1 Mutation Retrospective Diagnosis: A Case Report

por Vercellino, Fabiana, Valerio, Massimo, Dusio, Maria Pia, Spano, Alice, D'Alfonso, Sandra
Publicado 2023

Children and adults affected by Cri du Chat syndrome: Care's recommendations

por Liverani, Maria Elena, Spano, Alice, Danesino, Cesare, Malacarne, Michela, Cavani, Simona, Spunton, Marianna, Guala, Andrea
Publicado 2019

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

por Maguolo, Alice, Antoniazzi, Franco, Spano, Alice, Fiorini, Elena, Gaudino, Rossella, Mauro, Margherita, Cantalupo, Gaetano, Biban, Paolo, Maitz, Silvia, Cavarzere, Paolo
Publicado 2018

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Publicado 2020

The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

por Cattoni, Alessandro, Spano, Alice, Tulone, Anna, Boneschi, Annalisa, Masera, Nicoletta, Maitz, Silvia, Di Blasio, Anna Maria, Persani, Luca, Guizzardi, Fabiana, Rossetti, Raffaella
Publicado 2020

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

por Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara
Publicado 2022

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

por Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma
Publicado 2022