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Page 1
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.
Genes (Basel). 2023 Apr 18;14(4):934. doi: 10.3390/genes14040934.
Genes (Basel). 2023.
PMID: 37107692
Free PMC article.
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W.
Atac D, et al. Among authors: baehr l.
Hum Mol Genet. 2020 Jan 1;29(1):132-148. doi: 10.1093/hmg/ddz268.
Hum Mol Genet. 2020.
PMID: 31696227
Free article.
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Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak-Pfiffner F, Bahr A, Berger W.
Gerth-Kahlert C, et al. Among authors: baehr l.
Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2822-2835. doi: 10.1167/iovs.18-25643.
Invest Ophthalmol Vis Sci. 2019.
PMID: 31260034
Free article.
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C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W.
Gerth-Kahlert C, et al. Among authors: baehr l.
Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597.
Invest Ophthalmol Vis Sci. 2017.
PMID: 28763557
Free article.
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