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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-017-1566-3
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- Publication type:
- Article
Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies.
- Published in:
- 2012
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- Publication type:
- Abstract
Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 500, doi. 10.1002/ajmg.a.36287
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- Publication type:
- Article