Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 10
Results: 10
Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 931, doi. 10.1093/hmg/ddae053
- Publication type:
- Article
Correction to: ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 930, doi. 10.1093/hmg/ddae046
- Publication type:
- Article
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027
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- Publication type:
- Article
Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 884, doi. 10.1093/hmg/ddae021
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- Publication type:
- Article
Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 872, doi. 10.1093/hmg/ddae019
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- Publication type:
- Article
Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 860, doi. 10.1093/hmg/ddae018
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- Publication type:
- Article
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 850, doi. 10.1093/hmg/ddae016
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- Publication type:
- Article
AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 905, doi. 10.1093/hmg/ddae010
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- Publication type:
- Article
Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 837, doi. 10.1093/hmg/ddad182
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- Publication type:
- Article
The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 919, doi. 10.1093/hmg/ddae014
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- Publication type:
- Article