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Cordeddu, Viviana
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1

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Bi-allelic variants in SNF8 cause a disease spectrum rangin..:

Brugger, Melanie ; Lauri, Antonella ; Zhen, Yan...
The American Journal of Human Genetics.  111 (2024)  3 - p. 594-613 , 2024
Link: https://doi.org/10.1016/..
 
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3

Clinical profiling of MRD48 and functional characterization..:

Priolo, Manuela ; Zara, Erika ; Radio, Francesca Clementina...
European Journal of Human Genetics.  31 (2023)  7 - p. 805-814 , 2023
Link: https://doi.org/10.1038/..
 
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4

Natural history of MRAS‐related Noonan syndrome: Evidence o..:

Priolo, Manuela ; Mancini, Cecilia ; Radio, Francesca Clementina...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 160-166 , 2023
Link: https://doi.org/10.1002/..
 
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5

Expanding the molecular spectrum of pathogenicSHOC2variants..:

Motta, Marialetizia ; Solman, Maja ; Bonnard, Adeline A...
Human Molecular Genetics.  31 (2022)  16 - p. 2766-2778 , 2022
Link: https://doi.org/10.1093/..
 
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6

Complex Presentation of Hao-Fountain Syndrome Solved by Exo..:

Priolo, Manuela ; Mancini, Cecilia ; Pizzi, Simone...
Genes.  13 (2022)  5 - p. 889 , 2022
Link: https://doi.org/10.3390/..
 
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7

Biallelic Inactivating TUB Variants Cause Retinal Ciliopath..:

Ziccardi, Lucia ; Niceta, Marcello ; Stellacci, Emilia...
International Journal of Molecular Sciences.  23 (2022)  23 - p. 14656 , 2022
Link: https://doi.org/10.3390/..
 
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8

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Varian..:

Priolo, Manuela ; Radio, Francesca ; Pizzi, Simone...
Genes.  12 (2021)  7 - p. 1009 , 2021
Link: https://doi.org/10.3390/..
 
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9

Primrose syndrome: Characterization of the phenotype in 42 ..:

Melis, Daniela ; Carvalho, Daniel ; Barbaro‐Dieber, Tina...
Clinical Genetics.  97 (2020)  6 - p. 890-901 , 2020
Link: https://doi.org/10.1111/..
 
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10

Refinement of the clinical and mutational spectrum ofUBE2Ad..:

Cordeddu, Viviana ; Macke, Erica L. ; Radio, Francesca Clementina...
Clinical Genetics.  98 (2020)  2 - p. 172-178 , 2020
Link: https://doi.org/10.1111/..
 
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11

Co-occurring WARS2 and CHRNA6 mutations in a child with a s..:

Martinelli, Simone ; Cordeddu, Viviana ; Galosi, Serena...
Parkinsonism & Related Disorders.  72 (2020)  - p. 75-79 , 2020
Link: https://doi.org/10.1016/..
 
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12

Gene Therapy in Retinal Dystrophies:

Ziccardi, Lucia ; Cordeddu, Viviana ; Gaddini, Lucia...
International Journal of Molecular Sciences.  20 (2019)  22 - p. 5722 , 2019
Link: https://doi.org/10.3390/..
 
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13

Copy number variants in autism spectrum disorders:

Vicari, Stefano ; Napoli, Eleonora ; Cordeddu, Viviana...
Progress in Neuro-Psychopharmacology and Biological Psychiatry.  92 (2019)  - p. 421-427 , 2019
Link: https://doi.org/10.1016/..
 
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14

SHOC2 subcellular shuttling requires the KEKE motif-rich re..:

Motta, Marialetizia ; Chillemi, Giovanni ; Fodale, Valentina...
Human Molecular Genetics.  25 (2016)  17 - p. 3824-3835 , 2016
Link: https://doi.org/10.1093/..
 
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15

Noonan syndrome‐like disorder with loose anagen hair: A sec..:

Garavelli, Livia ; Cordeddu, Viviana ; Errico, Stefania...
American Journal of Medical Genetics Part A.  167 (2015)  8 - p. 1902-1907 , 2015
Link: https://doi.org/10.1002/..
 
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