TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor
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Published in American journal of medical genetics. Part A (01.05.2024)
Published in American journal of medical genetics. Part A (01.05.2024)
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
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Published in Genetics in medicine (01.07.2021)
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Avaliação da associação das variantes – 819 C>T (rs 1800871) / -592 C>A (rs 1800872) e -1082 A>G (rs1800896) do gene IL-10 na migrânea
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Published in Revista Headache Medicine (Online) (18.11.2021)
Published in Revista Headache Medicine (Online) (18.11.2021)
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