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Noskova, Lenka
68
results:
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Online (68)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (35)
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english (54)
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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/..
1-15