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List of works by Florian Erger

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

scientific article published on 2 June 2017

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

scientific article published on 27 June 2019

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

scientific article

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

scientific article published on 9 May 2018

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

scientific article published on 21 March 2019

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

scientific article published on 11 June 2018

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

scientific article published on 23 March 2019

cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

scientific article published on 24 June 2020

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