Martin Pavlov
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 11 publications
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 28, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.
Journal: Annals of clinical and translational neurology
Published: February 14, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 19, 2025
Genetic screening of children for familial hypercholesterolaemia: the VRONI study.
Journal: European heart journal
Published: September 17, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 11, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.
Journal: Mitochondrion
Published: December 17, 2024
De novo protein-coding gene variants in developmental stuttering.
Journal: Molecular psychiatry
Published: November 22, 2024
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Journal: Brain : a journal of neurology
Published: October 04, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Journal: Neuropediatrics
Published: March 28, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Journal: Hepatology (Baltimore, Md.)
Published: March 17, 2023
Showing 1-11 of 11
Last Updated: 09/26/2026