Eva Klopocki
Julius-Maximilians-Universität Würzburg
H-index: 42
Europe-Germany
Top articles of Eva Klopocki
Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease
Journal of Inherited Metabolic Disease
2024/4/15
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Human Genomics
2024/3/6
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes
Molecular Metabolism
2024/1/1
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data
Brain Communications
2024
Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy
Stem Cell Research
2023/12/1
Eva Klopocki
H-Index: 30
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment
2023/8
Eva Klopocki
H-Index: 30
State-of-the-art targeted high-throughput sequencing for detecting inherited platelet disorders
2023/8
Eva Klopocki
H-Index: 30
Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c. 1678C> G variant in the transient receptor potential cation channel subfamily …
Stem Cell Research
2023/6/1
Katharina Klug
H-Index: 5
Eva Klopocki
H-Index: 30
Generation of a ST3GAL3 null mutant induced pluripotent stem cell (iPSC) line (UKWMPi002-A-3) by CRISPR/Cas9 genome editing
Stem Cell Research
2023/3/1
Eva Klopocki
H-Index: 30
Tim Vanmierlo
H-Index: 22
Daniel Van Den Hove
H-Index: 34
Klaus-Peter Lesch
H-Index: 67
Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype …
Stem Cell Research
2021/12/1
P18-08 Identification of transcriptional biomarkers of nephrotoxicity in zebrafish larvae
Toxicology Letters
2022/9/1
Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c. 376A> G of unknown pathogenicity in Fabry disease
Stem Cell Research
2021/8/1
Microarray expression profiling of fndc3a zebrafish mutants
Micropublication Biology
2022
Daniel Liedtke
H-Index: 6
Eva Klopocki
H-Index: 30
Evaluation of larval zebrafish as an alternative whole-animal model for nephrotoxicity testing
Toxicology Letters
2021/9/1
Exploration of zebrafish larvae as an alternative whole-animal model for nephrotoxicity testing
Toxicology Letters
2021/6/15
CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)
Stem Cell Research
2021/5/1
Eva Klopocki
H-Index: 30
Atypical 22q11. 2 microduplication with “typical” signs and overgrowth
Cytogenetic and genome research
2021/4/8
Eva Klopocki
H-Index: 30
The importance of TNAP/Tnap for dental development in human cell culture and in zebrafish
Bone Reports
2021/4/1
Eva Klopocki
H-Index: 30
Daniel Liedtke
H-Index: 6
Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with …
Stem Cell Research
2021/3/1
Eva Klopocki
H-Index: 30
Daniel Van Den Hove
H-Index: 34
Tim Vanmierlo
H-Index: 22
Klaus-Peter Lesch
H-Index: 67
Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers
Stem Cell Research
2021/10/1
Eva Klopocki
H-Index: 30
Klaus-Peter Lesch
H-Index: 67
