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European Journal of Human Genetics (3)
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Showing 1–6 of 6 results

Advanced filters: Author: Florian Erger Clear advanced filters

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

Mert Karakaya
Iman Ragab
Boris Decarolis
Amendments and CorrectionsOpen Access27 Oct 2025
European Journal of Human Genetics

P: 1
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Florian Erger
Karin Burau
Christian Netzer
Research11 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1392-1395
A new era of treatment for primary hyperoxaluria type 1

New data from the ILLUMINATE-A trial of lumasiran demonstrate the safety and efficacy of this RNA interference therapeutic in patients with primary hyperoxaluria type 1. Further studies are required to investigate the potential long-term benefits of this promising therapy.

Florian Erger
Bodo B. Beck
News & Views10 Jun 2021
Nature Reviews Nephrology

Volume: 17, P: 573-574
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

Mert Karakaya
Iman Ragab
Boris Decarolis
ResearchOpen Access03 Dec 2024
European Journal of Human Genetics

Volume: 33, P: 334-343
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Kathrin Burgmaier
Gema Ariceta
Hulya Nalcacioglu
ResearchOpen Access29 Sept 2020
Scientific Reports

Volume: 10, P: 1-12