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Page 1
Pharmacogenetic Interventions Improve the Clinical Outcome of Treatment-Resistant Autistic Spectrum Disorder Sufferers.
Pharmaceutics. 2022 May 6;14(5):999. doi: 10.3390/pharmaceutics14050999.
Pharmaceutics. 2022.
PMID: 35631585
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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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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Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma.
Triviño E, Guitart M, Egozcue J, Coll MD.
Triviño E, et al.
Cancer Genet Cytogenet. 1997 Jul 1;96(1):23-5. doi: 10.1016/s0165-4608(97)89572-6.
Cancer Genet Cytogenet. 1997.
PMID: 9209465
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