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Year | Number of Results |
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1978 | 1 |
1988 | 2 |
2017 | 1 |
2019 | 1 |
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Page 1
[Rett's syndrome: study of 15 cases].
An Esp Pediatr. 1988 Apr;28(4):286-92.
An Esp Pediatr. 1988.
PMID: 2456708
Review.
Spanish.
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.
Item in Clipboard
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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[Hereditary transmission of a familial chromosome marker (author's transl)].
Moro Serrano M, Lautre Ecenarro MJ, Ruiz Domínguez J, Palacio Mestres C, Nogales Espert A.
Moro Serrano M, et al. Among authors: lautre ecenarro mj.
An Esp Pediatr. 1978 Aug-Sep;11(8-9):623-8.
An Esp Pediatr. 1978.
PMID: 568902
Spanish.
Item in Clipboard
Cytogenetic abnormalities in dyskeratosis congenita--report of five cases.
Aguilar-Martinez A, Lautre-Ecenarro MJ, Urbina-González F, Cristóbal-Gil MC, Guerra-Rodriguez P, García-Pérez A.
Aguilar-Martinez A, et al. Among authors: lautre ecenarro mj.
Clin Exp Dermatol. 1988 Mar;13(2):100-4. doi: 10.1111/j.1365-2230.1988.tb00668.x.
Clin Exp Dermatol. 1988.
PMID: 3214948
No abstract available.
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