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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-3
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- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- 2013
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- Publication type:
- journal article
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 657, doi. 10.1002/ajmg.a.36944
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- Publication type:
- Article
Polymorphisms in the Cytotoxic T Lymphocyte Antigen-4 Gene Region Confer Susceptibility to Addison’s Disease.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3474, doi. 10.1210/jc.2003-031854
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- Publication type:
- Article
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 977, doi. 10.1038/ejhg.2008.33
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- Publication type:
- Article
Reelse: Mertreffsikker fosterdiagnostikk.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2021, v. 141, n. 16, p. 1, doi. 10.4045/tidsskr.21.0728
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- Publication type:
- Article
Mer treffsikker fosterdiagnostikk.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2021, v. 141, n. 14, p. 1338
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- Publication type:
- Article