Mandy Krumbiegel
Erlangen, BY 91054, Germany
Last Updated: 09/26/2026
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Found 28 publications
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency.
Journal: HGG advances
Published: November 15, 2024
A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation.
Journal: Life science alliance
Published: October 20, 2024
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.
Journal: Clinical genetics
Published: February 19, 2024
Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.
Journal: Acta neuropathologica communications
Published: January 02, 2023
Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression.
Journal: Stem cell research
Published: August 07, 2022
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Journal: European journal of medical genetics
Published: July 08, 2022
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
Journal: European journal of medical genetics
Published: April 19, 2022
SRD5A3-CDG: Twins with an intragenic tandem duplication.
Journal: European journal of medical genetics
Published: January 10, 2022
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Journal: Nature
Published: November 09, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 21, 2021
A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine.
Journal: Transplant international : official journal of the European Society for Organ Transplantation
Published: January 14, 2021
Clinical and molecular delineation of spondylocostal dysostosis type 3.
Journal: Clinical genetics
Published: December 21, 2020
Last Updated: 09/26/2026