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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
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- Publication type:
- Article
Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810835
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- Article
A Rising Titan: TTN Review and Mutation Update.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1046, doi. 10.1002/humu.22611
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- Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
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- Publication type:
- Article