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The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005.
Nucleic Acids Res. 2024.
PMID: 37953324
Free PMC article.
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Y, Čajbiková NN, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A.
Muravyev A, et al. Among authors: cajbikova nn.
Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5.
Orphanet J Rare Dis. 2022.
PMID: 36104822
Free PMC article.
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