Stehling, Florian

Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study

Flume, P. A., Biner, R. F., Downey, D. G., Brown, C., Jain, M., Fischer, R., De Boeck, K., Sawicki, G. S., Chang, P., Paz-Diaz, H., et al. (2021) · The Lancet Respiratory Medicine

Cystic Fibrosis Research AdvancesInhalation and Respiratory Drug Delivery

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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., et al. (2022) · The Journal of Pathology

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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