Stefanie Beck-Wodl

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 55 publications

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

The Diverse Neuromuscular Spectrum of VPS13A Disease.

The Diverse Neuromuscular Spectrum of VPS13A Disease.

Journal: Annals of clinical and translational neurology

Published: April 02, 2025

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Journal: The New England journal of medicine

Published: September 18, 2024

An atypical presentation in a child with propionic acidemia? Better think twice!

An atypical presentation in a child with propionic acidemia? Better think twice!

Journal: JIMD reports

Published: July 16, 2024

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 26, 2024

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset

Journal: Neurology

Published: January 02, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Journal: Brain : a journal of neurology

Published: July 12, 2023

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Journal: American journal of medical genetics. Part A

Published: April 17, 2023

Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.

Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.

Journal: Molecular genetics and metabolism

Published: February 05, 2023

Novel Variants of SOX4 in Patients with Intellectual Disability.

Novel Variants of SOX4 in Patients with Intellectual Disability.

Journal: International journal of molecular sciences

Published: January 17, 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Showing 1-12 of 55

Last Updated: 09/26/2026