Found: 16
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CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2244, doi. 10.1172/JCI66466
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- Publication type:
- Article
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 43, doi. 10.1007/s00439-006-0292-0
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- Publication type:
- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Publication type:
- Article
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
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- Publication type:
- Article
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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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
CGHPRO -- A comprehensive data analysis tool for array CGH.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 1
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- Publication type:
- Article
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Plant regeneration from protoplasts of sugar beet (Beta vulgaris).
- Published in:
- Physiologia Plantarum, 1995, v. 94, n. 2, p. 342, doi. 10.1111/j.1399-3054.1995.tb05321.x
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- Publication type:
- Article
Leserzuschrift: Ergotherapeutische Ethik kollidiert mit erhhter Nachfrage nach Normalitt.
- Published in:
- Ergotherapie & Rehabilitation, 2010, v. 49, n. 5, p. 6
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- Publication type:
- Article
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9420
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- Publication type:
- Article
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1177, doi. 10.1093/hmg/10.11.1177
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- Publication type:
- Article
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207958
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- Publication type:
- Article
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
- Published in:
- Nature Genetics, 1998, v. 19, n. 4, p. 327, doi. 10.1038/1214
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- Publication type:
- Article
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1571, doi. 10.1093/hmg/8.8.1571
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- Publication type:
- Article