Found: 9
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Detection of microsatellite instability in Czech HNPCC patients.
- Published in:
- Journal of Applied Biomedicine, 2008, v. 6, n. 1, p. 15, doi. 10.32725/jab.2008.002
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- Publication type:
- Article
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09317-8
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- Publication type:
- Article
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01413-y
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- Publication type:
- Article
GAA(Glu)272→AAA(Lys) AND CGA(Arg)1941→CAA(Gln) IN THE FACTOR VIII GENE IN TWO HAEMOPHILIA A PATIENTS OF CZECH ORIGIN.
- Published in:
- British Journal of Haematology, 1992, v. 81, n. 3, p. 458, doi. 10.1111/j.1365-2141.1990.00300.x-i1
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- Publication type:
- Article
Factor VIII gene deletions in haemophilia A patients in Czechoslovakia.
- Published in:
- British Journal of Haematology, 1992, v. 81, n. 2, p. 271, doi. 10.1111/j.1365-2141.1992.tb08219.x
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- Publication type:
- Article
Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1083, doi. 10.1002/ajmg.a.62616
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- Publication type:
- Article
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report.
- Published in:
- 2011
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- Publication type:
- Case Study
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09317-8
- By:
- Publication type:
- Article
DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS.
- Published in:
- Movement Disorders, 2011, v. 26, n. 5, p. 924, doi. 10.1002/mds.23599
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- Publication type:
- Article