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Page 1
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Sci Rep. 2020 Jun 18;10(1):9909. doi: 10.1038/s41598-020-66588-4.
Sci Rep. 2020.
PMID: 32555378
Free PMC article.
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.
Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB.
Hey CAB, et al.
Stem Cell Res. 2019 Dec;41:101594. doi: 10.1016/j.scr.2019.101594. Epub 2019 Nov 4.
Stem Cell Res. 2019.
PMID: 31760295
Free article.
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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB.
Hey CAB, et al.
Int J Mol Sci. 2021 Jan 29;22(3):1345. doi: 10.3390/ijms22031345.
Int J Mol Sci. 2021.
PMID: 33572860
Free PMC article.
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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB.
Hey CAB, et al.
Stem Cell Res. 2018 Dec;33:46-50. doi: 10.1016/j.scr.2018.09.013. Epub 2018 Sep 20.
Stem Cell Res. 2018.
PMID: 30312873
Free article.
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Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB.
Hey CAB, et al.
Stem Cell Res. 2018 Aug;31:235-239. doi: 10.1016/j.scr.2018.08.005. Epub 2018 Aug 10.
Stem Cell Res. 2018.
PMID: 30142598
Free article.
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