Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 23
Results: 10
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3807, doi. 10.1093/hmg/ddaa277
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- Article
Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3845, doi. 10.1093/hmg/ddaa255
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- Article
Merlin cooperates with neurofibromin and Spred1 to suppress the Ras–Erk pathway.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3793, doi. 10.1093/hmg/ddaa263
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- Article
A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3765, doi. 10.1093/hmg/ddaa260
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- Article
Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3781, doi. 10.1093/hmg/ddaa259
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- Article
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3818, doi. 10.1093/hmg/ddaa267
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- Article
Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3744, doi. 10.1093/hmg/ddaa226
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- Article
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3729, doi. 10.1093/hmg/ddaa225
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- Article
Urinary metabolite quantitative trait loci in children and their interaction with dietary factors.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3830, doi. 10.1093/hmg/ddaa257
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- Article
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
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- Human Molecular Genetics, 2020, v. 29, n. 23, p. 3757, doi. 10.1093/hmg/ddaa245
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- Article