Found: 5
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Optimized short digestion protocol for free fetal DNA detection using methylation-dependent markers.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2017, v. 41, n. 4, p. 195, doi. 10.1515/labmed-2017-0016
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- Article
Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 251, doi. 10.1002/ajmg.a.34377
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- Article
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 86, doi. 10.1186/1471-2350-12-86
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- Article
Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 79, doi. 10.1002/humu.22211
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- Article
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
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- Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00246-4
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- Article