Found: 17
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No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01506
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- Article
Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
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- Nefrologia, 2020, v. 40, n. 3, p. 351, doi. 10.1016/j.nefro.2019.09.003
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- Article
Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.
- Published in:
- Wiener Klinische Wochenschrift, 2005, v. 117, n. 7/8, p. 269, doi. 10.1007/s00508-005-0337-8
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- Article
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.
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- Breast Cancer Research & Treatment, 2011, v. 126, n. 1, p. 119, doi. 10.1007/s10549-010-1325-x
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- Article
The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.
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- Breast Cancer Research & Treatment, 2005, v. 90, n. 2, p. 165, doi. 10.1007/s10549-004-4023-8
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- Article
Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 5, p. 364, doi. 10.1111/ahg.12026
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- Article
Chronic Pancreatitis Associated with the p.G208A Variant of PRSS1 Gene in a European Patient.
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- JOP Journal of the Pancreas, 2014, v. 15, n. 1, p. 49
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- Publication type:
- Article
Rapid and Efficient Detection of EGFR Mutations in Problematic Cytologic Specimens by High-Resolution Melting Analysis.
- Published in:
- Molecular Diagnosis & Therapy, 2011, v. 15, n. 1, p. 21, doi. 10.1007/BF03257190
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- Article
TRIM28 haploinsufficiency predisposes to Wilms tumor.
- Published in:
- International Journal of Cancer, 2019, v. 145, n. 4, p. 941, doi. 10.1002/ijc.32167
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- Article
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.
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- 2019
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- Publication type:
- journal article
High-grade brain tumors in siblings with biallelic MSH6 mutations.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 57, n. 6, p. 1067, doi. 10.1002/pbc.23217
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- Publication type:
- Article
High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders.
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- Human Mutation, 2015, v. 36, n. 2, p. 250, doi. 10.1002/humu.22734
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- Publication type:
- Article
Familiárna stredomorská horúčka - prvé skúsenosti na Slovensku.
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- Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 80
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- Publication type:
- Article
Familiárna stredomorská horúčka - klinický obraz, diagnóza a liečba.
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- Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 30
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- Publication type:
- Article
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #598 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127
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- Publication type:
- Article
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in SlovakiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #598 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127
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- Publication type:
- Article
Association of follicular lymphoma risk with BRCA2 N372H Polymorphism in Slovak population.
- Published in:
- Medical Oncology, 2012, v. 29, n. 2, p. 1173, doi. 10.1007/s12032-011-9925-9
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- Publication type:
- Article