Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 5
Results: 14
Circulating microRNAs as potential biomarkers of disease activity and structural damage in ankylosing spondylitis patients.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 875, doi. 10.1093/hmg/ddy008
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- Publication type:
- Article
CORRIGENDUM: A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 941, doi. 10.1093/hmg/ddy015
- Publication type:
- Article
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010
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- Publication type:
- Article
Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 891, doi. 10.1093/hmg/ddy009
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- Publication type:
- Article
miR-96 is required for normal development of the auditory hindbrain.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 860, doi. 10.1093/hmg/ddy007
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- Publication type:
- Article
Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 853, doi. 10.1093/hmg/ddy005
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- Publication type:
- Article
Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 837, doi. 10.1093/hmg/ddy004
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- Publication type:
- Article
Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 823, doi. 10.1093/hmg/ddy003
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- Publication type:
- Article
Genome-wide analysis of disease progression in age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 929, doi. 10.1093/hmg/ddy002
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- Publication type:
- Article
Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 912, doi. 10.1093/hmg/ddy001
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- Publication type:
- Article
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 811, doi. 10.1093/hmg/ddx442
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- Publication type:
- Article
Genetic variants influencing phenotypic variance heterogeneity.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 799, doi. 10.1093/hmg/ddx441
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- Publication type:
- Article
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 780, doi. 10.1093/hmg/ddx440
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- Publication type:
- Article
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 761, doi. 10.1093/hmg/ddx438
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- Publication type:
- Article