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

Hyperlysinemia, an ultrarare inborn error of metabolism: re..:

Marinella, G. ; Pascarella, F. ; Vetro, Annalisa...
Seizure: European Journal of Epilepsy.  , 2024
Link: https://doi.org/10.1016/..
 
?
2

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology.  102 (2024)  2 - p. , 2024
Link: https://doi.org/10.1212/..
 
?
3

A novel SLC5A6 homozygous variant in a family with multivit..:

Montomoli, Martino ; Vetro, Annalisa ; Tubili, Flavia...
European Journal of Medical Genetics.  66 (2023)  8 - p. 104808 , 2023
Link: https://doi.org/10.1016/..
 
?
4

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine.  25 (2023)  4 - p. 100003 , 2023
Link: https://doi.org/10.1016/..
 
?
5

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1356-1376 , 2023
Link: https://doi.org/10.1016/..
 
?
6

Additive effect of DNAJC30 and NDUFA9 mutations causing Lei..:

Nesti, Claudia ; Ticci, Chiara ; Rubegni, Anna...
Journal of Neurology.  , 2023
Link: https://doi.org/10.1007/..
 
?
7

Comment on: "The expanding genetic and clinical landscape a..:

Vetro, Annalisa
European Journal of Human Genetics.  31 (2023)  8 - p. 853-855 , 2023
Link: https://doi.org/10.1038/..
 
?
8

Drosophila functional screening of de novo variants in auti..:

Marcogliese, Paul C. ; Deal, Samantha L. ; Andrews, Jonathan...
Cell Reports.  38 (2022)  11 - p. 110517 , 2022
Link: https://doi.org/10.1016/..
 
?
9

GM3 synthase deficiency in non-Amish patients:

Heide, Solveig ; Jacquemont, Marie-Line ; Cheillan, David...
Genetics in Medicine.  24 (2022)  2 - p. 492-498 , 2022
Link: https://doi.org/10.1016/..
 
?
10

Dominant ARF3 variants disrupt Golgi integrity and cause a ..:

Fasano, Giulia ; Muto, Valentina ; Radio, Francesca Clementina...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
?
11

Pathogenic MAST3 Variants in the STK Domain Are Associated ..:

Spinelli, Egidio ; Christensen, Kyle R. ; Bryant, Emily...
Annals of Neurology.  90 (2021)  2 - p. 274-284 , 2021
Link: https://doi.org/10.1002/..
 
?
12

ATP1A2- and ATP1A3-associated early profound epileptic ence..:

Vetro, Annalisa ; Nielsen, Hang N ; Holm, Rikke...
Brain.  144 (2021)  5 - p. 1435-1450 , 2021
Link: https://doi.org/10.1093/..
 
?
13

Mutations in the exocyst component EXOC2 cause severe defec..:

Van Bergen, Nicole J. ; Ahmed, Syed Mukhtar ; Collins, Felicity...
Journal of Experimental Medicine.  217 (2020)  10 - p. , 2020
Link: https://doi.org/10.1084/..
 
?
14

Shedding light on dark genes: enhanced targeted resequencin..:

Iadarola, Barbara ; Xumerle, Luciano ; Lavezzari, Denise...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
?
15

De novo CLTC variants are associated with a variable phenot..:

Nabais Sá, Maria J. ; Venselaar, Hanka ; Wiel, Laurens...
Genetics in Medicine.  22 (2020)  4 - p. 797-802 , 2020
Link: https://doi.org/10.1038/..
 
1-15