E-LIB Suche - Ergebnisse für: Hartmannová, Hana

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

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/..

3

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/..

4

Trends in SARS-CoV-2 cycle threshold values in the Czech Re..:

Musalkova, Dita ; Piherova, Lenka ; Kwasny, Ondrej...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

5

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/..

6

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulo..:

Vylet'al, Petr ; Kidd, Kendrah ; Ainsworth, Hannah C....
American Journal of Nephrology. 52 (2021) 5 - p. 378-387 , 2021

Link: https://doi.org/10.1159/..

7

Outcomes of patient self-referral for the diagnosis of seve..:

Bleyer, Anthony J. ; Kidd, Kendrah ; Robins, Victoria...
Genetics in Medicine. 22 (2020) 1 - p. 142-149 , 2020

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

8

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/..

9

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/..

10

SP025Aberrant biogenesis and trafficking of secretory prote..:

Zivna, Martina ; Vyleťal, Petr ; Barešová, Veronika...
Nephrology Dialysis Transplantation. 34 (2019) Supplement_1 - p. , 2019

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

11

Quality of life in patients with autosomal dominant tubuloi..:

Bleyer, Anthony J. ; Kidd, Kendrah ; Johnson, Emily...
Clinical Nephrology. 92 (2019) 6 - p. 302-311 , 2019

Link: https://doi.org/10.5414/..

12

Validation of CZECANCA (CZEch CAncer paNel for Clinical App..:

Soukupova, Jana ; Zemankova, Petra ; Lhotova, Klara...
PLOS ONE. 13 (2018) 4 - p. e0195761 , 2018

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

13

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/..

14

Clinical manifestations and molecular aspects of phosphorib..:

Zikánová, Marie ; Wahezi, Dawn ; Hay, Arielle...
Rheumatology. 57 (2018) 7 - p. 1180-1185 , 2018

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

15

Multiplex PCR and NGS-based identification of mRNA splicing..:

Hojny, Jan ; Zemankova, Petra ; Lhota, Filip...
Gene. 637 (2017) - p. 41-49 , 2017

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