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Page 1
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Hum Mutat. 2009 Mar;30(3):454-62. doi: 10.1002/humu.20933.
Hum Mutat. 2009.
PMID: 19241459
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.
Maortua H, et al. Among authors: lopez ariztegui ma.
BMC Med Genet. 2012 Aug 6;13:68. doi: 10.1186/1471-2350-13-68.
BMC Med Genet. 2012.
PMID: 22867051
Free PMC article.
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MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI.
Maortua H, et al. Among authors: lopez ariztegui ma.
J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26.
J Mol Diagn. 2013.
PMID: 23810759
Free article.
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Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.
Merino S, Ibarluzea N, Maortua H, Prieto B, Rouco I, López-Aríztegui MA, Tejada MI.
Merino S, et al. Among authors: lopez ariztegui ma.
Genes (Basel). 2016 Oct 21;7(10):90. doi: 10.3390/genes7100090.
Genes (Basel). 2016.
PMID: 27775646
Free PMC article.
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