SEVERI, GIULIA

SEVERI, GIULIA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

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Risultati 1 - 9 di 9 (tempo di esecuzione: 0.021 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graz...iano, Marco seri, Pamela Magini 2023-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.06 Abstract in rivista -
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q Diquigiovanni C.; Rizzardi N.; Kampmeier A.; Liparulo I.; Bianco F.; De Nicolo B.; Cataldi-Staget...ti E.; Cuna E.; Severi G.; Seri M.; Bertrand M.; Haack T.B.; Marina A.D.; Braun F.; Fato R.; Kuechler A.; Bergamini C.; Bonora E. 2023-01-01 OPEN BIOLOGY - 1.01 Articolo in rivista diquigiovanni-et-al-2023-mutant-spart-causes-defects-in-mitochondrial-protein-import-and-bioenergetics-reversed-by.pdf
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 Genome Res.-2022-Hirsch-1242-53.pdfsuppl.zip
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 s10803-020-04551-y.pdf231308c7-61b5-43e5-befd-365842d292a9.pdf
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 s00439-020-02187-7.pdfPalombo_2020_AM.pdf
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late Minardi R.; Licchetta L.; Baroni M.C.; Pippucci T.; Stipa C.; Mostacci B.; Severi G.; Toni F.; Be...rgonzini L.; Carelli V.; Seri M.; Tinuper P.; Bisulli F. 2020-01-01 CLINICAL GENETICS - 1.01 Articolo in rivista Clinical Genetics - 2020 - Minardi - Whole‐exome sequencing in adult patients with developmental and epileptic.pdfcge13823-sup-0003-tables2.docxcge13823-sup-0004-tables3.docxcge13823-sup-0005-supinfo.docx
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 -
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 -
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 -