E-LIB Suche - Ergebnisse für: Vestito, Letizia

1

De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain. , 2024

Link: https://doi.org/10.1093/..

2

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/..

3

Functional genomics provide key insights to improve the dia..:

Chen, Zhongbo ; Tucci, Arianna ; Cipriani, Valentina...
Brain. 146 (2023) 7 - p. 2869-2884 , 2023

Link: https://doi.org/10.1093/..

4

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine. 25 (2023) 10 - p. 100961 , 2023

Link: https://doi.org/10.1016/..

5

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine. 24 (2022) 10 - p. 2079-2090 , 2022

Link: https://doi.org/10.1016/..

6

Translational profiling of mouse dopaminoceptive neurons re..:

Montalban, Enrica ; Giralt, Albert ; Taing, Lieng...
Molecular Psychiatry. 27 (2022) 4 - p. 2068-2079 , 2022

Link: https://doi.org/10.1038/..

7

Dimensional reduction of phenotypes from 53 000 mouse model..:

Konopka, Tomasz ; Vestito, Letizia ; Smedley, Damian.
Bioinformatics Advances. 1 (2021) 1 - p. , 2021

Link: https://doi.org/10.1093/..

8

Diverse species-specific phenotypic consequences of loss of..:

Bryant, Dale ; Seda, Marian ; Peskett, Emma...
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

9

Functional genomics provide key insights to improve the dia..:

Chen, Zhongbo ; Tucci, Arianna ; Cipriani, Valentina...
https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdf. , 2023

Link: https://discovery.ucl.ac..

10

Rare disease gene association discovery from burden analysi..:

Cipriani, Valentina ; Vestito, Letizia ; Magavern, Emma F...
https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdf. , 2023

Link: https://discovery.ucl.ac..

11

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..

12

Rare disease gene association discovery from burden analysi..:

Cipriani, Valentina ; Vestito, Letizia ; Magavern, Emma F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10775325/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf. , 2022

Link: https://discovery.ucl.ac..

14

Translational profiling of mouse dopaminoceptive neurons re..:

Montalban, Enrica ; Giralt, Albert ; Taing, Lieng...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01439-4. , 2022

Link: https://hal.sorbonne-uni..

15

Translational profiling of mouse dopaminoceptive neurons re..:

Montalban, Enrica ; Giralt, Albert ; Taing, Lieng...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01439-4. , 2022

Link: https://hal.sorbonne-uni..