E-LIB Suche - Ergebnisse für: Stránecký, Viktor

1

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/..

2

A comprehensive analysis of germline predisposition to earl..:

Horackova, Klara ; Zemankova, Petra ; Nehasil, Petr...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

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/..

4

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD a..:

Elhassan, Elhussein A.E. ; Kmochová, Tereza ; Benson, Katherine A....
Kidney International Reports. 9 (2024) 7 - p. 2209-2226 , 2024

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

5

Sodium-glucose cotransporter 2 inhibitors induce anti-infla..:

Kasperova, Barbora Judita ; Mraz, Milos ; Svoboda, Petr...
Cardiovascular Diabetology. 23 (2024) 1 - p. , 2024

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

6

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/..

7

Exome sequencing reveals IFT172 variants in patients with n..:

Neřoldová, Magdaléna ; Ciara, Elżbieta ; Slatinská, Janka...
PLOS ONE. 18 (2023) 7 - p. e0288907 , 2023

Link: https://doi.org/10.1371/..

8

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/..

9

A new patient with congenital myasthenic syndrome type 20 d..:

Vlckova, Marketa ; Prchalova, Darina ; Zimmermann, Pavel...
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023

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

10

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/..

11

Low Frequency of Cancer-Predisposition Gene Mutations in Li..:

Horackova, Klara ; Frankova, Sona ; Zemankova, Petra...
Cancers. 15 (2022) 1 - p. 201 , 2022

Link: https://doi.org/10.3390/..

12

POLRMT mutations impair mitochondrial transcription causing..:

Oláhová, Monika ; Peter, Bradley ; Szilagyi, Zsolt...
Nature Communications. 12 (2021) 1 - p. , 2021

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

13

Non-Penetrance for Ocular Phenotype in Two Individuals Carr..:

Dudakova, Lubica ; Stranecky, Viktor ; Piherova, Lenka...
Genes. 12 (2021) 5 - p. 677 , 2021

Link: https://doi.org/10.3390/..

14

Genetic heterogeneity of neuronal intranuclear inclusion di..:

Sikora, Jakub ; Jedlickova, Ivana ; Pristoupilova, Anna..
Annals of Clinical and Translational Neurology. 8 (2021) 4 - p. 994-1001 , 2021

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

15

Pseudodominant Nanophthalmos in a Roma Family Caused by a N..:

Dudakova, Lubica ; Skalicka, Pavlina ; Ulmanová, Olga...
Journal of Ophthalmology. 2020 (2020) - p. 1-9 , 2020

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