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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: bruder e. Hum Mutat. 2016 Jul;37(7):711. doi: 10.1002/humu.22997. Epub 2016 Apr 15. Hum Mutat. 2016. PMID: 27300082 No abstract available.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: bruder e. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N, Bruder E, Lapaire O, Hoesli I, Kang A, Hench J, Hoeller S, De Geyter J, Miny P, Heinimann K, Chaoui R, Tercanli S, Filges I. Meier N, et al. Among authors: bruder e. Eur J Hum Genet. 2019 May;27(5):730-737. doi: 10.1038/s41431-018-0324-y. Epub 2019 Jan 24. Eur J Hum Genet. 2019. PMID: 30679815 Free PMC article.
Dual independent genetic etiologies in a lethal complex malformation phenotype.
Filges I, Genewein A, Weber P, Meier S, Deigendesch N, Bruder E, Prüfer F, Tercanli S. Filges I, et al. Among authors: bruder e. Ultraschall Med. 2020 Apr;41(2):112-114. doi: 10.1055/a-1104-3625. Epub 2020 Apr 7. Ultraschall Med. 2020. PMID: 32259861 English. No abstract available.
169 results