Found: 8
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Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 11, p. 1719, doi. 10.1515/cclm-2014-1047
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- Publication type:
- Article
High-Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD).
- Published in:
- Journal of Clinical Laboratory Analysis, 2014, v. 28, n. 4, p. 328, doi. 10.1002/jcla.21689
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- Publication type:
- Article
First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis.
- Published in:
- Human Reproduction Update, 2014, v. 20, n. 5, p. 656, doi. 10.1093/humupd/dmu022
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- Publication type:
- Article
First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis.
- Published in:
- 2014
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- Publication type:
- Journal Article
6q27 subtelomeric deletions: Is there a specific phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1213, doi. 10.1002/ajmg.a.33877
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- Publication type:
- Article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2017
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- Publication type:
- Erratum
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2016
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- Publication type:
- Erratum
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x
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- Publication type:
- Article