Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Anna Pecková
Observed name:
Anna Peckova
OpenAlex ID:
A5118629392
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
2025
·
Camille Engel
, Michaela Rendek
, et al.
·
European Journal of Human Genetics
·
4
Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
2026
·
Anna Uhrova Meszarosova
, Elea Galiart
, et al.
·
Frontiers in Medicine
·
3
PDF
Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier
2026
·
Jana Vasova
, Cinzia Rinaldo
, et al.
·
Neurogenetics
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
2026
·
Camille Engel
, Michaela Rendek
, et al.
·
European Journal of Human Genetics
PDF
Show more works
View as search
Works count:
4
Citation count:
7
H-index:
2
I10-index:
Year
Topic
Type
