Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 21
Results: 10
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3554, doi. 10.1093/hmg/ddaa249
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- Publication type:
- Article
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3566, doi. 10.1093/hmg/ddaa250
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- Publication type:
- Article
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3516, doi. 10.1093/hmg/ddaa237
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- Article
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3493, doi. 10.1093/hmg/ddaa235
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- Publication type:
- Article
The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3504, doi. 10.1093/hmg/ddaa234
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- Publication type:
- Article
Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3546, doi. 10.1093/hmg/ddaa232
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- Publication type:
- Article
MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3532, doi. 10.1093/hmg/ddaa231
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- Publication type:
- Article
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3477, doi. 10.1093/hmg/ddaa229
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- Publication type:
- Article
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3578, doi. 10.1093/hmg/ddaa222
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- Publication type:
- Article
Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3465, doi. 10.1093/hmg/ddaa218
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- Publication type:
- Article