SEVERI, GIULIA

SEVERI, GIULIA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Mostra records
Risultati 1 - 6 di 6 (tempo di esecuzione: 0.083 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M. 2020-01-01 HUMAN GENETICS - 1.01 Articolo in rivista -
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara..., Milena; Seri, Marco; Rossi, Cesare 2017-01-01 OPHTHALMIC GENETICS - 1.01 Articolo in rivista -
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. 2019-01-01 CYTOGENETIC AND GENOME RESEARCH - 1.01 Articolo in rivista -
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magin...i, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y 2022-01-01 GENOME RESEARCH - 1.01 Articolo in rivista -
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, ...Bonora E. 2021-01-01 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista -
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini..., Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio* 2016-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -