Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 4
Results: 7
Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 347, doi. 10.1093/hmg/ddae190
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- Publication type:
- Article
Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 327, doi. 10.1093/hmg/ddae186
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- Article
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 313, doi. 10.1093/hmg/ddae185
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- Article
Dissecting the shared genetic architecture between nonalcoholic fatty liver disease and type 2 diabetes.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 338, doi. 10.1093/hmg/ddae184
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- Publication type:
- Article
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 368, doi. 10.1093/hmg/ddae182
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- Publication type:
- Article
The role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 291, doi. 10.1093/hmg/ddae180
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- Publication type:
- Article
Identification of hub genes and biological pathways related to central post-stroke pain in ischemic stroke.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 4, p. 304, doi. 10.1093/hmg/ddae178
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- Publication type:
- Article