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Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6737938
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- Article
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
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- Journal of Perinatal Medicine, 2018, v. 46, n. 9, p. 968, doi. 10.1515/jpm-2017-0124
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- Article