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Early-onset stroke in two siblings with Neurofibromatosis type 1.
Rukavina K, Töpper R, Kunze A, Hess A, Glatzel M, Valdueza JM, Farschtschi S, Hagel C. Rukavina K, et al. Among authors: farschtschi s. Eur J Med Genet. 2019 Oct;62(10):103710. doi: 10.1016/j.ejmg.2019.103710. Epub 2019 Jul 4. Eur J Med Genet. 2019. PMID: 31279841
Growth in neurofibromatosis 1 microdeletion patients.
Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM. Ning X, et al. Among authors: farschtschi s. Clin Genet. 2016 Mar;89(3):351-4. doi: 10.1111/cge.12632. Epub 2015 Jul 22. Clin Genet. 2016. PMID: 26111455
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: farschtschi s. Mol Genet Genomic Med. 2018 May 20;6(4):627-37. doi: 10.1002/mgg3.412. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29779243 Free PMC article.
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H, Kluwe L, Friedrich RE, Summerer A, Schäfer E, Wahlländer U, Matthies C, Gugel I, Farschtschi S, Hagel C, Cooper DN, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: farschtschi s. Hum Genet. 2018 Jul;137(6-7):543-552. doi: 10.1007/s00439-018-1909-9. Epub 2018 Jul 13. Hum Genet. 2018. PMID: 30006736 Clinical Trial.
47 results