Ann-kathrin Zaum
Wuerzburg, BY 97074, Germany
Last Updated: 09/26/2026
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Found 9 publications
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.
Journal: Biomedicines
Published: October 09, 2024
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
Journal: International journal of molecular sciences
Published: June 08, 2024
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Journal: International journal of molecular sciences
Published: August 07, 2023
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Journal: Genes
Published: August 17, 2022
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Journal: Molecular genetics & genomic medicine
Published: September 30, 2021
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Journal: BMC pediatrics
Published: February 26, 2021
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Journal: Neuromuscular disorders : NMD
Published: February 13, 2018
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Journal: Neuromuscular disorders : NMD
Published: January 20, 2017
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
Journal: Journal of neurology
Published: August 15, 2016
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Last Updated: 09/26/2026