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Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis.
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- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 6, p. 1707, doi. 10.1534/g3.116.029975
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- Article
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
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- Nature Communications, 2014, v. 5, n. 3, p. 3416, doi. 10.1038/ncomms4416
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- Article
Results and lessons from dual extraction of DNA and RNA from formalin-fixed paraffin-embedded breast tumor tissues for a large Cancer epidemiologic study.
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- BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08837-6
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- Article
Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing.
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- JAMA Ophthalmology, 2014, v. 132, n. 10, p. 1215, doi. 10.1001/jamaophthalmol.2014.1731
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- Article
Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3-q34.3 and 16p12.3-q22.2.
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- Human Heredity, 2012, v. 74, n. 1, p. 36, doi. 10.1159/000343751
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- Article