ℹ️
🇨🇿
Hledání
Hledat osoby relevantní k dotazu "UPCONVERTING NANOPARTICLES"
UPCONVERTING NANOPARTICLES
Osoba
Předměty
Osoby
Publikace
Studium
Mgr. Lenka Nosková Ph.D.
Externí osoba na 1. lékařská fakulta
33 publikací
Publikace
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023 |
1. lékařská fakulta
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
1. lékařská fakulta
publication
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
2023 |
1. lékařská fakulta
publication
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
2023 |
1. lékařská fakulta
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
1. lékařská fakulta, 3. lékařská fakulta
publication
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
2022 |
1. lékařská fakulta
publication
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
2022 |
1. lékařská fakulta
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
1. lékařská fakulta
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
1. lékařská fakulta
Načíst další publikace (23)
Loading network view...