Found: 15
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Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 516, doi. 10.1093/hmg/ddx421
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- Publication type:
- Article
Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 486, doi. 10.1093/hmg/ddx418
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- Publication type:
- Article
DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 576, doi. 10.1093/hmg/ddx425
- Publication type:
- Article
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 559, doi. 10.1093/hmg/ddx416
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- Publication type:
- Article
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 529, doi. 10.1093/hmg/ddx422
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- Publication type:
- Article
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 505, doi. 10.1093/hmg/ddx420
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- Publication type:
- Article
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419
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- Publication type:
- Article
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 546, doi. 10.1093/hmg/ddx413
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- Publication type:
- Article
Interplay between FMRP and lncRNA TUG1 regulates axonal development through mediating SnoN-Ccd1 pathway.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 475, doi. 10.1093/hmg/ddx417
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- Publication type:
- Article
Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS<sup>WT</sup> transgenic mice.
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- Human Molecular Genetics, 2018, v. 27, n. 3, p. 463, doi. 10.1093/hmg/ddx415
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- Publication type:
- Article
Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 451, doi. 10.1093/hmg/ddx414
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- Publication type:
- Article
Loss of offspring Peg3 reduces neonatal ultrasonic vocalizations and increases maternal anxiety in wild-type mothers.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 440, doi. 10.1093/hmg/ddx412
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- Publication type:
- Article
Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 430, doi. 10.1093/hmg/ddx411
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- Publication type:
- Article
De novo mutations implicate novel genes in systemic lupus erythematosus.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 421, doi. 10.1093/hmg/ddx407
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- Publication type:
- Article
TorsinA dysfunction causes persistent neuronal nuclear pore defects.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 407, doi. 10.1093/hmg/ddx405
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- Publication type:
- Article