Found: 16
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Double hits in schizophrenia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2755, doi. 10.1093/hmg/ddy175
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- Publication type:
- Article
Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2725, doi. 10.1093/hmg/ddy182
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- Publication type:
- Article
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2703, doi. 10.1093/hmg/ddy180
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- Article
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2678, doi. 10.1093/hmg/ddy178
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- Publication type:
- Article
Immunoglobulin profiling identifies unique signatures in patients with Kawasaki disease during intravenous immunoglobulin treatment.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2671, doi. 10.1093/hmg/ddy176
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- Publication type:
- Article
Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2604, doi. 10.1093/hmg/ddy166
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- Publication type:
- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2739, doi. 10.1093/hmg/ddy183
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- Publication type:
- Article
Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2614, doi. 10.1093/hmg/ddy169
- Publication type:
- Article
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2644, doi. 10.1093/hmg/ddy173
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- Article
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2628, doi. 10.1093/hmg/ddy172
- Publication type:
- Article
Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2773, doi. 10.1093/hmg/ddy209
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- Publication type:
- Article
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2762, doi. 10.1093/hmg/ddy184
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- Publication type:
- Article
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2689, doi. 10.1093/hmg/ddy179
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- Publication type:
- Article
BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2712, doi. 10.1093/hmg/ddy181
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- Publication type:
- Article
C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2658, doi. 10.1093/hmg/ddy174
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- Publication type:
- Article
Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2589, doi. 10.1093/hmg/ddy150
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- Publication type:
- Article