E-LIB Suche - Ergebnisse für: Musalkova, Dita

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

2

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/..

3

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/..

4

Loading of cell cultures with cholesterol‐dextran particles..:

Majer, Filip ; Asfaw, Befekadu ; Kuchař, Ladislav...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 584-592 , 2022

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

5

Pitfalls of X‐chromosome inactivation testing in females wi..:

Řeboun, Martin ; Sikora, Jakub ; Magner, Martin...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 1979-1989 , 2022

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

6

Transcript, protein, metabolite and cellular studies in ski..:

Musalkova, Dita ; Majer, Filip ; Kuchar, Ladislav...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

7

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/..

8

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/..

9

Variable X-chromosome inactivation and enlargement of peric..:

Musalkova, Dita ; Sticova, Eva ; Reboun, Martin...
Virchows Archiv. 472 (2018) 6 - p. 1029-1039 , 2018

Link: https://doi.org/10.1007/..

10

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/..

11

HGSNAT has a TATA-less promoter with multiple starts of tra..:

Richtrova, Eva ; Mrazova, Lenka S. ; Musalkova, Dita...
Gene. 592 (2016) 1 - p. 36-42 , 2016

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

12

Identification of novel informative loci for DNA-based X-in..:

Musalkova, Dita ; Minks, Jakub ; Storkanova, Gabriela..
Blood Cells, Molecules, and Diseases. 54 (2015) 2 - p. 210-216 , 2015

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

13

Corrigendum to "Hyperuricemia and gout due to deficiency of..:

Kostalova, Eva ; Pavelka, Karel ; Vlaskova, Hana..
Clinica Chimica Acta. 447 (2015) - p. 121 , 2015

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

14

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

Musalkova, Dita ; Piherova, Lenka ; Kwasny, Ondrej...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105352/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Autosomal-dominant adult neuronal ceroid lipofuscinosis cau..:

Jedličková, Ivana ; Cadieux-Dion, Maxime ; Přistoupilová, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253421/. , 2020

Link: http://www.ncbi.nlm.nih...