Karall, Daniela

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

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L-serine treatment in patients with GRIN -related encephalopathy: a phase 2A, non-randomized study

Juliá-Palacios, N., Olivella, M., Sigatullina Bondarenko, M., Ibáñez-Micó, S., Muñoz-Cabello, B., Alonso-Luengo, O., Soto-Insuga, V., García-Navas, D., Cuesta-Herraiz, L., Andreo-Lillo, P., et al. (2024) · Brain

Genetics and Neurodevelopmental DisordersMetabolism and Genetic Disorders

Cited by 36

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites

Genetics and Neurodevelopmental DisordersMetabolomics and Mass Spectrometry Studies

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