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Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1019, doi. 10.1002/ajmg.a.35843
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- Article
Cloning of a 2.5 kb Murine Bone Sialoprotein Promoter Fragment and Functional Analysis of Putative Osf2 Binding Sites.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 3, p. 396, doi. 10.1359/jbmr.1999.14.3.396
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- Article
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 736, doi. 10.1093/hmg/ddy378
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- Article
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4272, doi. 10.1093/hmg/ddu144
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- Article
A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in <i>Polypodia</i> Mice.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003967
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- Article
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 5, p. 698, doi. 10.1111/cen.13311
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- Article