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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
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- Nature Genetics, 2006, v. 38, n. 7, p. 801, doi. 10.1038/ng1814
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- Article
Regulation of the Mouse Treacher Collins Syndrome Homolog ( Tcof1) Promoter Through Differential Repression of Constitutive Expression.
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- DNA & Cell Biology, 2008, v. 27, n. 11, p. 589, doi. 10.1089/dna.2008.0766
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- Article
Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia.
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- Journal of Neuroscience, 2010, v. 30, n. 28, p. 9612, doi. 10.1523/JNEUROSCI.1763-10.2010
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- Article
rRNA transcription is integral to phase separation and maintenance of nucleolar structure.
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- PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010854
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- Article
Why Do Faculty Leave? Reasons for Attrition of Women and Minority Faculty from a Medical School: Four-Year Results.
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- Journal of Women's Health (15409996), 2008, v. 17, n. 7, p. 1111, doi. 10.1089/jwh.2007.0582
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- Article
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.656
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- Article
GLRB is the third major gene of effect in hyperekplexia.
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- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2552, doi. 10.1093/hmg/ddt147
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- Article
GLRB is the third major gene of effect in hyperekplexia.
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- Human Molecular Genetics, 2013, v. 22, n. 5, p. 927, doi. 10.1093/hmg/dds498
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- Article
Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.
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- Mammalian Genome, 2006, v. 17, n. 2, p. 168, doi. 10.1007/s00335-005-0079-y
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- Article
Gene Expression Changes Between Patent and Fused Cranial Sutures in a Nonsyndromic Craniosynostosis Population.
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- ePlasty: Open Access Journal of Plastic Surgery, 2015, v. 15, p. 80
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- Article
Mutational analysis of familial and sporadic hyperekplexia.
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- Annals of Neurology, 1995, v. 38, n. 1, p. 85, doi. 10.1002/ana.410380115
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- Article
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
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- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1947, doi. 10.1093/hmg/7.12.1947
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- Article
The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus.
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- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1947, doi. 10.1093/hmg/7.12.1947
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- Article
Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1.
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- Human Molecular Genetics, 1997, v. 6, n. 5, p. 727, doi. 10.1093/hmg/6.5.727
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- Article
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
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- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2175
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- Article
Whole-Exome Sequencing Identifies the VHL Mutation (c.262T > C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma.
- Published in:
- Current Oncology, 2022, v. 29, n. 4, p. 2376, doi. 10.3390/curroncol29040192
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- Article