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Florian Erger

Showing results (1-10 of 43) with videos related to

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Nature Reviews. Nephrology|June 11, 2021
A new era of treatment for primary hyperoxaluria type 1Florian Erger, Bodo B Beck
Molecular and Cellular Probes|March 28, 2019
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approachFlorian Erger, Christian P Schaaf, Christian Netzer
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Carrier testing for autosomal recessive disorders: a look at current practice in GermanyChristian Netzer, Clara Velmans, Florian Erger, et al.
Archives of Gynecology and Obstetrics|March 12, 2017
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseasesFlorian Erger, Nadina Ortiz Brüchle, Ulrich Gembruch, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analysesFlorian Erger, Karin Burau, Michael Elsässer, et al.
Frontiers in Pediatrics|March 29, 2020
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal DiseaseChristina Taylan, Andrea Wenzel, Florian Erger, et al.
Clinical Kidney Journal|June 15, 2026
Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approachJan Degenhardt, Theresa von Zehmen, Bodo Beck, et al.
JACC. Case Reports|December 4, 2025
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic CardiomyopathyAthanasios Feidakis, Richard Nies, Merve Kural, et al.
Kidney International|May 18, 2025
Anti-nephrin antibodies guide living donor kidney transplantation in a pediatric patient with primary focal segmental glomerular sclerosisSandra Habbig, Hanna Debiec, Malha Chedik, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndromeVera Riehmer, Florian Erger, Peter Herkenrath, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Nature Reviews. Nephrology|June 11, 2021
A new era of treatment for primary hyperoxaluria type 1Florian Erger, Bodo B Beck
Molecular and Cellular Probes|March 28, 2019
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approachFlorian Erger, Christian P Schaaf, Christian Netzer
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Carrier testing for autosomal recessive disorders: a look at current practice in GermanyChristian Netzer, Clara Velmans, Florian Erger, et al.
Archives of Gynecology and Obstetrics|March 12, 2017
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseasesFlorian Erger, Nadina Ortiz Brüchle, Ulrich Gembruch, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analysesFlorian Erger, Karin Burau, Michael Elsässer, et al.
Frontiers in Pediatrics|March 29, 2020
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal DiseaseChristina Taylan, Andrea Wenzel, Florian Erger, et al.
Clinical Kidney Journal|June 15, 2026
Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approachJan Degenhardt, Theresa von Zehmen, Bodo Beck, et al.
JACC. Case Reports|December 4, 2025
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic CardiomyopathyAthanasios Feidakis, Richard Nies, Merve Kural, et al.
Kidney International|May 18, 2025
Anti-nephrin antibodies guide living donor kidney transplantation in a pediatric patient with primary focal segmental glomerular sclerosisSandra Habbig, Hanna Debiec, Malha Chedik, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndromeVera Riehmer, Florian Erger, Peter Herkenrath, et al.
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