Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 12
Results: 17
Correction to: Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2118, doi. 10.1093/hmg/ddad045
- Publication type:
- Article
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2093, doi. 10.1093/hmg/ddad044
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- Publication type:
- Article
GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2103, doi. 10.1093/hmg/ddad043
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- Publication type:
- Article
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2068, doi. 10.1093/hmg/ddad042
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- Publication type:
- Article
Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2055, doi. 10.1093/hmg/ddad041
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- Publication type:
- Article
A partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2119, doi. 10.1093/hmg/ddad040
- Publication type:
- Article
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2046, doi. 10.1093/hmg/ddad039
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- Publication type:
- Article
Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 1945, doi. 10.1093/hmg/ddad038
- Publication type:
- Article
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
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- Publication type:
- Article
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2032, doi. 10.1093/hmg/ddad034
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- Publication type:
- Article
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2016, doi. 10.1093/hmg/ddad033
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- Publication type:
- Article
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032
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- Publication type:
- Article
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1<sup>−/−</sup> zebrafish deletion models of Leigh syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 1988, doi. 10.1093/hmg/ddad031
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- Publication type:
- Article
Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 1959, doi. 10.1093/hmg/ddad030
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- Publication type:
- Article
Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 1975, doi. 10.1093/hmg/ddad029
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- Publication type:
- Article
Correction to: Genomic analyses in African populations identify novel risk loci for cleft palate.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2117, doi. 10.1093/hmg/ddad027
- Publication type:
- Article
Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 1946, doi. 10.1093/hmg/ddad026
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- Publication type:
- Article