I agree that this site is using cookies. You can find further informations here.
X
Pavinato, Lisa
40  results:
Search for persons X
?
1

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100309 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics.  32 (2024)  6 - p. 619-629 , 2024
Link: https://doi.org/10.1038/..
 
?
3

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine.  25 (2023)  11 - p. 100922 , 2023
Link: https://doi.org/10.1016/..
 
?
4

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
European Journal of Human Genetics.  31 (2023)  11 - p. 1228-1236 , 2023
Link: https://doi.org/10.1038/..
 
?
5

Spinocerebellar ataxia 38: structure–function analysis show..:

Ferrero, Enza ; Di Gregorio, Eleonora ; Ferrero, Marta...
Human Genetics.  142 (2023)  8 - p. 1055-1076 , 2023
Link: https://doi.org/10.1007/..
 
?
6

De novo truncatingNOVA2variants affect alternative splicing..:

Scala, Marcello ; Drouot, Nathalie ; MacLennan, Suzanna C....
Human Mutation.  43 (2022)  9 - p. 1299-1313 , 2022
Link: https://doi.org/10.1002/..
 
?
7

CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:

Pavinato, Lisa ; Delle Vedove, Andrea ; Carli, Diana...
Brain.  146 (2022)  2 - p. 534-548 , 2022
Link: https://doi.org/10.1093/..
 
?
8

The Emerging Roles of Long Non-Coding RNAs in Intellectual ..:

Liaci, Carla ; Prandi, Lucia ; Pavinato, Lisa...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 6118 , 2022
Link: https://doi.org/10.3390/..
 
?
9

KCNK18 Biallelic Variants Associated with Intellectual Disa..:

Pavinato, Lisa ; Nematian-Ardestani, Ehsan ; Zonta, Andrea...
International Journal of Molecular Sciences.  22 (2021)  11 - p. 6064 , 2021
Link: https://doi.org/10.3390/..
 
?
10

Expanding the clinical phenotype of the ultra‐rare Skraban‐..:

Pavinato, Lisa ; Trajkova, Slavica ; Grosso, Enrico...
American Journal of Medical Genetics Part A.  185 (2021)  6 - p. 1712-1720 , 2021
Link: https://doi.org/10.1002/..
 
?
11

Biallelic PI4KA variants cause a novel neurodevelopmental s..:

Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina...
Brain.  144 (2021)  9 - p. 2659-2669 , 2021
Link: https://doi.org/10.1093/..
 
?
12

New Insights into Potocki-Shaffer Syndrome: Report of Two N..:

Trajkova, Slavica ; Di Gregorio, Eleonora ; Ferrero, Giovanni Battista...
Brain Sciences.  10 (2020)  11 - p. 788 , 2020
Link: https://doi.org/10.3390/..
 
?
13

Spinocerebellar ataxia 38: structure-function analysis show..:

Ferrero, Enza ; Di Gregorio, Eleonora ; Ferrero, Marta...
info:eu-repo/semantics/altIdentifier/pmid/37199746.  , 2023
Link: https://hdl.handle.net/2..
 
?
14

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
info:eu-repo/semantics/altIdentifier/pmid/36879111.  , 2023
Link: https://hdl.handle.net/2..
 
?
15

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
1-15