E-LIB Suche - Ergebnisse für: Noskova, Lenka

1

Disruption of OVOL2 Distal Regulatory Elements as a Possibl..:

Dudakova, Lubica ; Noskova, Lenka ; Kmoch, Stanislav...
Human Mutation. 2024 (2024) - p. 1-10 , 2024

Link: https://doi.org/10.1155/..

2

Increased burden of rare protein‐truncating variants in con..:

Mušálková, Dita ; Přistoupilová, Anna ; Jedličková, Ivana...
Genes, Brain and Behavior. 23 (2024) 1 - p. , 2024

Link: https://doi.org/10.1111/..

3

ATAD3A-related pontocerebellar hypoplasia: new patients and..:

Skopkova, Martina ; Stufkova, Hana ; Rambani, Vibhuti...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

4

Autosomal dominant Zellweger spectrum disorder caused by de..:

Waterham, Hans R. ; Koster, Janet ; Ebberink, Merel S....
Genetics in Medicine. 25 (2023) 11 - p. 100944 , 2023

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

5

ADAM22 ethnic-specific variant reducing binding of membrane..:

Nosková, Lenka ; Fukata, Yuko ; Stránecký, Viktor...
Brain Communications. 5 (2023) 6 - p. , 2023

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

6

Pathogenic RAB34 variants impair primary cilium assembly an..:

Bruel, Ange-Line ; Ganga, Anil Kumar ; Nosková, Lenka...
Human Molecular Genetics. 32 (2023) 18 - p. 2822-2831 , 2023

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

7

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain. 145 (2022) 5 - p. 1624-1631 , 2022

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

8

GABBR1 monoallelic de novo variants linked to neurodevelopm..:

Cediel, Maria Lucia ; Stawarski, Michal ; Blanc, Xavier...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1885-1893 , 2022

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

9

Autosomal-dominant adult neuronal ceroid lipofuscinosis cau..:

The Adult NCL Gene Discovery Consortium ; Jedličková, Ivana ; Cadieux-Dion, Maxime...
European Journal of Human Genetics. 28 (2020) 6 - p. 783-789 , 2020

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

10

Spinal muscular atrophy caused by a novel Alu‐mediated dele..:

Jedličková, Ivana ; Přistoupilová, Anna ; Nosková, Lenka...
Molecular Genetics & Genomic Medicine. 8 (2020) 7 - p. , 2020

Link: https://doi.org/10.1002/..

11

Rare copy number variation in extremely impulsively violent..:

Vevera, Jan ; Zarrei, Mehdi ; Hartmannová, Hana...
Genes, Brain and Behavior. 18 (2018) 6 - p. , 2018

Link: https://doi.org/10.1111/..

12

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 an..:

Davidson, Alice E. ; Liskova, Petra ; Evans, Cerys J....
The American Journal of Human Genetics. 98 (2016) 1 - p. 75-89 , 2016

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

13

Mutations in ANTXR1 Cause GAPO Syndrome:

Stránecký, Viktor ; Hoischen, Alexander ; Hartmannová, Hana...
The American Journal of Human Genetics. 92 (2013) 5 - p. 792-799 , 2013

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

14

Cerebellar dysfunction in a family harboring the PSEN1 muta..:

Ehling, Rainer ; Nosková, Lenka ; Stránecký, Viktor...
Journal of the Neurological Sciences. 326 (2013) 1-2 - p. 75-82 , 2013

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

15

Novel phenotype associated with OPA1 mutations?:

Tesařová, Markéta ; Stránecký, Viktor ; Kratochvílová, Hana...
Mitochondrion. 12 (2012) 5 - p. 559 , 2012

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