Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 3
Results: 14
purely quantitative form of partial recessive IFN- γ R2 deficiency caused by mutations of the initiation or second codon.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 524, doi. 10.1093/hmg/ddy357
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Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 459, doi. 10.1093/hmg/ddy359
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p53 deletion rescues lethal microcephaly in a mouse model with neural stem cell abscission defects.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 434, doi. 10.1093/hmg/ddy350
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Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 372, doi. 10.1093/hmg/ddy321
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Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 515, doi. 10.1093/hmg/ddy360
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Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 351, doi. 10.1093/hmg/ddy332
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Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 487, doi. 10.1093/hmg/ddy363
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Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 422, doi. 10.1093/hmg/ddy354
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Mice lacking α -, β 1- and β 2-syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscle.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 386, doi. 10.1093/hmg/ddy341
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Low levels of NMNAT2 compromise axon development and survival.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 448, doi. 10.1093/hmg/ddy356
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Multiplication of the SNCA locus exacerbates neuronal nuclear aging.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 407, doi. 10.1093/hmg/ddy355
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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 476, doi. 10.1093/hmg/ddy364
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- Article
Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 501, doi. 10.1093/hmg/ddy366
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- Article
Cmah -dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment.
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- Human Molecular Genetics, 2019, v. 28, n. 3, p. 396, doi. 10.1093/hmg/ddy346
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