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Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0671-0
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- Article
Whole‐exome sequencing for diagnosis of hereditary ichthyosis.
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- Journal of the European Academy of Dermatology & Venereology, 2018, v. 32, n. 6, p. 1022, doi. 10.1111/jdv.14870
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- Article
Characterization of novel mutations in the catalytic domain of the PCSK9 gene.
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- Journal of Internal Medicine, 2008, v. 263, n. 4, p. 420, doi. 10.1111/j.1365-2796.2007.01915.x
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- Article
Chromosomal localization and detection of DNA polymorphisms in the bovine polymeric immunoglobulin receptor gene.
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- Animal Genetics, 1994, v. 25, p. 113, doi. 10.1111/j.1365-2052.1994.tb00438.x
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- Article
Chromosomal localization and detection of DNA polymorphisms in the bovine polymeric immunoglobulin receptor gene.
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- Animal Genetics, 1994, v. 25, n. 2, p. 113, doi. 10.1111/j.1365-2052.1994.tb00090.x
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- Article