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Clinical features of pediatric Danon disease and the importance of early diagnosis.
Int J Cardiol. 2023 Oct 15;389:131189. doi: 10.1016/j.ijcard.2023.131189. Epub 2023 Jul 14.
Int J Cardiol. 2023.
PMID: 37454822
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
Torrado M, Fernández G, Ganoza CA, Maneiro E, García D, Sonicheva-Paterson N, Rosa I, Ochoa JP, Santomé L, Vasichkina E, Monserrat L.
Torrado M, et al. Among authors: sonicheva paterson n.
NPJ Genom Med. 2021 Mar 4;6(1):21. doi: 10.1038/s41525-021-00183-y.
NPJ Genom Med. 2021.
PMID: 33664273
Free PMC article.
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Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Ochoa JP, Lopes LR, Perez-Barbeito M, Cazón-Varela L, de la Torre-Carpente MM, Sonicheva-Paterson N, De Uña-Iglesias D, Quinn E, Kuzmina-Krutetskaya S, Garrote JA, Elliott PM, Monserrat L.
Ochoa JP, et al. Among authors: sonicheva paterson n.
Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11.
Clin Genet. 2020.
PMID: 32335906
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