Found: 10
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Multiple trichoepitheliomas – a novel mutation in the CYLD gene.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2010, v. 24, n. 7, p. 844, doi. 10.1111/j.1468-3083.2009.03497.x
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- Publication type:
- Article
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.
- Published in:
- 2008
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- Publication type:
- Letter
Molekulargenetischer Mutationsnachweis im PTPN11-Gen beim Multiple-Lentigines- (LEOPARD-)Syndrom.
- Published in:
- Der Hautarzt, 2003, v. 54, n. 12, p. 1190, doi. 10.1007/s00105-003-0640-0
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- Publication type:
- Article
Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
- Published in:
- Annals of Human Genetics, 2008, v. 72, n. 1, p. 35, doi. 10.1111/j.1469-1809.2007.00396.x
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- Publication type:
- Article
Another case of autosomal dominant exstrophy of the bladder.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 375, doi. 10.1002/pd.879
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- Publication type:
- Article
A case of Brooke–Spiegler syndrome with a new mutation in the CYLD gene.
- Published in:
- British Journal of Dermatology, 2006, v. 154, n. 5, p. 992, doi. 10.1111/j.1365-2133.2006.07142.x
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- Publication type:
- Article
Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 12, p. 1743, doi. 10.1007/s00415-007-0529-4
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- Publication type:
- Article
Hereditre multiple Exostosen.
- Published in:
- Der Orthopäde, 2005, v. 34, n. 5, p. 470, doi. 10.1007/s00132-005-0774-0
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- Publication type:
- Article
Mutation in Na<sub>v</sub> 1.7 causes high olfactory sensitivity.
- Published in:
- 2018
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- Publication type:
- journal article
Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 325, doi. 10.1034/j.1399-0004.2003.00065.x
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- Publication type:
- Article