Found: 12
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Six years prenatal screening for 2 lethal autosomal recessive inheritable diseases: cholestasis familiaris groenlandica and propionic acidemia.
- Published in:
- Circumpolar Health Supplements, 2013, v. 72, p. 991, doi. 10.3402/ijch.v72i0.22447
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- Article
Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study.
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- International Journal of Colorectal Disease, 2002, v. 17, n. 2, p. 109, doi. 10.1007/s003840100348
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- Article
De novo mutations in familial adenomatous polyposis (FAP).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 631, doi. 10.1038/sj.ejhg.5200853
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- Article
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.
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- Acta Oncologica, 2008, v. 47, n. 4, p. 772, doi. 10.1080/02841860802004974
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- Article
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
- Published in:
- 2011
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- Publication type:
- journal article
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-58
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- Article
CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
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- BMC Cancer, 2007, v. 7, p. 163, doi. 10.1186/1471-2407-7-163
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- Article
Mutation analysis of the adenomatous polyposis coli ( APC) gene in Danish patients with familial adenomatous polyposis (FAP).
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- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9234
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- Article
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 20, doi. 10.1002/humu.10083
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- Article
Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate.
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- Human Mutation, 1994, v. 3, n. 2, p. 121, doi. 10.1002/humu.1380030206
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- Article
Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families.
- Published in:
- 2008
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- Publication type:
- journal article
von Hippel-Lindau development in children and adolescents.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2381, doi. 10.1002/ajmg.a.38324
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- Article