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Flavie Ader

Showing results (11-20 of 41) with videos related to

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Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|February 28, 2025
Imaging features of desmoplakin arrhythmogenic cardiomyopathy: A comparative cardiovascular magnetic resonance studyMikael Laredo, Etienne Charpentier, Shannon Soulez, et al.
Clinical Genetics|October 31, 2023
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosisClaire Perret, Carole Proust, Ulrike Esslinger, et al.
Biomedicines|February 24, 2024
The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein InstabilityMarion Onnée, Audrey Bénézit, Sultan Bastu, et al.
European Journal of Medical Genetics|September 29, 2019
A 14q distal chromoanagenesis elucidated by whole genome sequencingFlavie Ader, Solveig Heide, Pauline Marzin, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Cells|January 21, 2023
Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with CardiomyopathiesNathalie Vadrot, Flavie Ader, Maryline Moulin, et al.
Reproductive Biomedicine Online|July 17, 2017
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriersAlexandre Rouen, Léa Carlier, Solveig Heide, et al.
Clinical Genetics|February 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathyFlavie Ader, Guillaume Jedraszak, Alexandre Janin, et al.
Clinical Genetics|January 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic CounselingMarie Massier, Pascal de Groote, Erwan Donal, et al.
Genetics in Medicine Open|January 16, 2026
Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humansFlavie Ader, Céline Guilbeau-Frugier, Emeline Lhuillier, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|February 28, 2025
Imaging features of desmoplakin arrhythmogenic cardiomyopathy: A comparative cardiovascular magnetic resonance studyMikael Laredo, Etienne Charpentier, Shannon Soulez, et al.
Clinical Genetics|October 31, 2023
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosisClaire Perret, Carole Proust, Ulrike Esslinger, et al.
Biomedicines|February 24, 2024
The <i>FLNC</i> Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein InstabilityMarion Onnée, Audrey Bénézit, Sultan Bastu, et al.
European Journal of Medical Genetics|September 29, 2019
A 14q distal chromoanagenesis elucidated by whole genome sequencingFlavie Ader, Solveig Heide, Pauline Marzin, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Cells|January 21, 2023
Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with CardiomyopathiesNathalie Vadrot, Flavie Ader, Maryline Moulin, et al.
Reproductive Biomedicine Online|July 17, 2017
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriersAlexandre Rouen, Léa Carlier, Solveig Heide, et al.
Clinical Genetics|February 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathyFlavie Ader, Guillaume Jedraszak, Alexandre Janin, et al.
Clinical Genetics|January 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic CounselingMarie Massier, Pascal de Groote, Erwan Donal, et al.
Genetics in Medicine Open|January 16, 2026
Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humansFlavie Ader, Céline Guilbeau-Frugier, Emeline Lhuillier, et al.
Pageof 5