Found: 5
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A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8383, doi. 10.1038/ncomms9383
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- Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205
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- Article
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 30, doi. 10.1159/000452609
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- Article
Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastricneuroendocrine tumour.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2914, doi. 10.1093/hmg/ddv054
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- Article
Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
- Published in:
- International Journal of Cancer, 2018, v. 143, n. 8, p. 1954, doi. 10.1002/ijc.31604
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- Publication type:
- Article