Found: 8
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Global Protein Profiling in Processed Immunohistochemistry Tissue Sections.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11308, doi. 10.3390/ijms241411308
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- Publication type:
- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Publication type:
- Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967
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- Publication type:
- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Publication type:
- Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
- Published in:
- Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
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- Publication type:
- Article
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1976, doi. 10.1002/ajmg.a.34077
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- Publication type:
- Article
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
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- Publication type:
- Article