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An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
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- Clinical Case Reports, 2016, v. 4, n. 8, p. 824, doi. 10.1002/ccr3.632
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The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.796862
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- Article
A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability.
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- FEBS Letters, 2020, v. 594, n. 4, p. 717, doi. 10.1002/1873-3468.13640
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- Article