Baumann, Matthias

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy

Baumann, M., Korenke, C., Weddige-Diedrichs, A., Wilichowski, E., Hunneman, D., Wilken, B., Brockmann, K., Klingebiel, T., Niethammer, D., Kühl, J., et al. (2003) · European Journal of Pediatrics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 47

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Baumann, M., Beaver, E. M., Palomares‐Bralo, M., Santos‐Simarro, F., Holzer, P., Povysil, G., Müller, T., Valovka, T., & Janecke, A. R. (2020) · Human Mutation

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 16