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Page 1
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480.
Int J Mol Sci. 2022.
PMID: 36012761
Free PMC article.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.
Vidal S, et al.
Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.
Sci Rep. 2017.
PMID: 28947817
Free PMC article.
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Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Tristán-Clavijo E, Scholl FG, Macaya A, Iglesias G, Rojas AM, Lucas M, Castellano A, Martinez-Mir A.
Tristán-Clavijo E, et al. Among authors: iglesias g.
Mov Disord. 2016 Nov;31(11):1743-1748. doi: 10.1002/mds.26737. Epub 2016 Aug 1.
Mov Disord. 2016.
PMID: 27477325
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.
Vidal S, et al.
Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y.
Sci Rep. 2021.
PMID: 34493777
Free PMC article.
No abstract available.
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group.
Xiol C, et al.
Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w.
Sci Rep. 2019.
PMID: 31427717
Free PMC article.
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