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Page 1
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Genes (Basel). 2022 Nov 18;13(11):2154. doi: 10.3390/genes13112154.
Genes (Basel). 2022.
PMID: 36421828
Free PMC article.
The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J.
Vössing C, et al. Among authors: markus f.
Int J Mol Sci. 2021 Mar 30;22(7):3583. doi: 10.3390/ijms22073583.
Int J Mol Sci. 2021.
PMID: 33808286
Free PMC article.
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A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Markus F, Kannengießer A, Näder P, Atigbire P, Scholten A, Vössing C, Bültmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J.
Markus F, et al.
J Hum Genet. 2021 Dec;66(12):1159-1167. doi: 10.1038/s10038-021-00947-5. Epub 2021 Jul 1.
J Hum Genet. 2021.
PMID: 34211111
Free PMC article.
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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M.
Markus F, et al.
Mol Genet Genomic Med. 2020 Sep;8(9):e1388. doi: 10.1002/mgg3.1388. Epub 2020 Jun 25.
Mol Genet Genomic Med. 2020.
PMID: 32588540
Free PMC article.
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