608 results on '"Limon, Janusz"'
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2. Correction to: Unjustly forgotten scientist Wacław Mayzel (1847–1916)—co‑discoverer of somatic mitosis
3. Unjustly forgotten scientist Wacław Mayzel (1847–1916)—co-discoverer of somatic mitosis
4. Albert de la Chapelle—pro memoriam
5. Sex contribution to average age at onset of Huntington’s disease depends on the number of (CAG)n repeats.
6. Microdeletion of Target Sites for Insulator Protein CTCF in a Chromosome 11p15 Imprinting Center in Beckwith-Wiedemann Syndrome and Wilms' Tumor
7. Legend for supplementary Figure S1 from Tumor Genotype Is an Independent Prognostic Factor in Primary Gastrointestinal Stromal Tumors of Gastric Origin: A European Multicenter Analysis Based on ConticaGIST
8. Figure S1 from Tumor Genotype Is an Independent Prognostic Factor in Primary Gastrointestinal Stromal Tumors of Gastric Origin: A European Multicenter Analysis Based on ConticaGIST
9. Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland
10. Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer’s disease
11. Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts
12. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
13. Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum
14. Coincidence of PTPN22 c.1858CC and FCRL3 ‐169CC genotypes as a biomarker of preserved residual β‐cell function in children with type 1 diabetes†‡
15. Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum
16. Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing
17. Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe
18. The efficacy of EGFR gene mutation testing in various samples from non-small cell lung cancer patients: a multicenter retrospective study
19. Routine brush cytology and fluorescence in situ hybridization for assessment of pancreatobiliary strictures
20. Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies
21. Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
22. What are the current outcomes of advanced gastrointestinal stromal tumors: who are the long-term survivors treated initially with imatinib?
23. HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours
24. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
25. Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients
26. Unjustly forgotten scientist Wacław Mayzel (1847-1916)-co-discoverer of somatic mitosis
27. Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
28. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
29. Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases
30. Angiotensin converting enzyme gene polymorphism is associated with severity of coronary artery disease in men with high total cholesterol levels
31. Cancer predisposing BARD1 mutations in breast–ovarian cancer families
32. Beta-2 adrenoreceptor gene polymorphisms and sympathetic outflow in humans
33. Prevalence of the most frequent BRCA1 mutations in Polish population
34. Expression and significance of HER family receptors in neuroblastic tumors
35. Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in theLDLR gene
36. Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland
37. Cancer predisposing BARD1 mutations in breast-ovarian cancer families
38. Predictive factors for long-term effects of imatinib therapy in patients with inoperable/metastatic CD117(+) gastrointestinal stromal tumors (GISTs)
39. Risk Criteria and Prognostic Factors for Predicting Recurrences After Resection of Primary Gastrointestinal Stromal Tumor
40. Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors
41. Rodzinne występowanie guza Wilmsa w zespole Beckwitha-Wiedemanna – analiza kliniczna i genetyczna trójpokoleniowej rodziny
42. HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours
43. A Unique Occurrence of a Cerebral Atypical Teratoid/Rhabdoid Tumor in an Infant and a Spinal Canal Primitive Neuroectodermal Tumor in her Father
44. Association of the Scal atrial natriuretic peptide gene polymorphism with nonfatal myocardial infarction and extent of coronary artery disease
45. Increased risk of non-small cell lung cancer and frequency of somatic TP53 gene mutations in Pro72 carriers of TP53 Arg72Pro polymorphism
46. Patterns of keratin polypeptides in 110 biphasic, monophasic, and poorly differentiated synovial sarcomas
47. Clinical utility of the new American Joint Committee on Cancer staging system for gastrointestinal stromal tumors: Current overall survival after primary tumor resection
48. A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib
49. Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland
50. Association of Genes Related to Oxidative Stress with the Extent of Coronary Atherosclerosis
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