Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 22
Results: 14
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
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- Article
Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3842, doi. 10.1093/hmg/ddz221
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- Article
Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3853, doi. 10.1093/hmg/ddz219
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- Article
FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3777, doi. 10.1093/hmg/ddz217
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- Article
Functional assessment of variants associated with Wolfram syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3815, doi. 10.1093/hmg/ddz212
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- Article
Acute manganese treatment restores defective autophagic cargo loading in Huntington's disease cell lines.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3825, doi. 10.1093/hmg/ddz209
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- Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
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- Article
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
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- Article
AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of spinal muscular atrophy.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3742, doi. 10.1093/hmg/ddz188
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- Article
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
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- Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
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Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3734, doi. 10.1093/hmg/ddz164
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- Article
Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3792, doi. 10.1093/hmg/ddz160
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- Article
Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado–Joseph disease models.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3691, doi. 10.1093/hmg/ddz097
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- Article