Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 20
Results: 11
Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3339, doi. 10.1093/hmg/ddz177
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- Article
The repair of endo/exogenous DNA double-strand breaks and its effects on meiotic chromosome segregation in oocytes.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3422, doi. 10.1093/hmg/ddz156
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- Article
Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3355, doi. 10.1093/hmg/ddz171
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- Article
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy<sup>2J</sup>/dy<sup>2J</sup> mouse model of Lama2-CMD.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3369, doi. 10.1093/hmg/ddz180
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- Article
Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3486, doi. 10.1093/hmg/ddz119
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- Article
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3406, doi. 10.1093/hmg/ddz184
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- Article
Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3475, doi. 10.1093/hmg/ddz159
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- Article
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3443, doi. 10.1093/hmg/ddz176
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- Article
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3466, doi. 10.1093/hmg/ddz203
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- Article
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
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- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3391, doi. 10.1093/hmg/ddz186
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- Article
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3498, doi. 10.1093/hmg/ddz145
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- Publication type:
- Article