Suchergebnisse - "Jager, Joanna"

PubPharm (8)

1

Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations

enthalten in: Stem cell research | 2024

von Ribeiro, M. | Jager, J. | Furtado, M. | +6

2

Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G>A mutation

enthalten in: ResearchSquare.com | 2024

von Ribeiro, M. | Jager, J. | Furtado, M. | +6

3

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

enthalten in: European heart journal | 2021

von Lopes, L. | Garcia-Hernández, S. | Lorenzini, M. | +44

CommentIn: Eur Heart J. 2021 Aug 21;42(32):3074-3077. - PMID 34263911

4

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants

enthalten in: Circulation. Genomic and precision medicine | 2021

von Lopes, L. | Murphy, D. | Bugiardini, E. | +11

5

The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy

enthalten in: The Canadian journal of cardiology | 2021

von Protonotarios, A. | Brodehl, A. | Asimaki, A. | +15

CommentIn: Can J Cardiol. 2021 Jun;37(6):819-821. - PMID 33359000

6

Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

enthalten in: Circulation. Genomic and precision medicine | 2020

von Lopes, L. | Barbosa, P. | Torrado, M. | +9

7

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort

enthalten in: International journal of molecular sciences | 2020

von Bueno Marinas, M. | Celeghin, R. | Cason, M. | +10

8

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives

enthalten in: Circulation | 2019

von Norrish, G. | Jager, J. | Field, E. | +8

CommentIn: Circulation. 2019 Jul 16;140(3):193-195. - PMID 31306063

1
[1]