216 results on '"Wertheim-Tysarowska, Katarzyna"'
Search Results
2. Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
3. Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
4. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients
5. Metody biologii molekularnej w identyfikacji zmian germinalnych i somatycznych w chorobach płuc
6. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
7. The Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected Genodermatoses
8. The genetic basis of classical galactosaemia in Polish patients
9. The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis
10. Genetyczne podłoże zespołu Ushera w kontekście patologii molekularnej narządu słuchu i wzroku
11. The clinical course of hereditary pancreatitis in children – A comprehensive analysis of 41 cases
12. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family
13. Fatty acid profiles in various lipid fractions in the female epidermis. Does the body site and age matter?
14. Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients
15. A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis
16. The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
17. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics
18. Molekularne podłoże keratynopatii
19. Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype
20. The Novel P330L Pathogenic Variant of Aromatic Amino Acid Decarboxylase Maps on the Catalytic Flexible Loop Underlying its Crucial Role
21. Additional file 1 of Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
22. Gene Conversion Between Cationic Trypsinogen (PRSS1) and the Pseudogene Trypsinogen 6 (PRSS3P2) in Patients with Chronic Pancreatitis
23. Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype
24. Additional file 1 of The genetic basis of classical galactosaemia in Polish patients
25. Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases—Review Article
26. Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych
27. Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update
28. Disease-Specific Databases: Why We Need Them and Some Recommendations From the Human Variome Project Meeting, May 28, 2011
29. The COL7A1 mutation database
30. Efficacy of gentamicin 0.3% solution of oral erosions healing in patients with severe generalized recessive dystrophic epidermolysis bullosa and its impact on the expression of type VII collagen
31. Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex
32. Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report
33. Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population
34. Mutation in the KRT1 gene causing epidermolysis bullosa simplex
35. The analysis of echocardiographic results in patients suffering from epidermolysis bullosa
36. Genetic basis of chronic pancreatitis in 300 Polish pediatric patients: An attempt to classify the genotypes into causative and contributory
37. Identification of novel and rare recurrent genetic variants in early onset chronic pancreatitis by whole exome sequencing
38. A novel de novo mutation p.Ala428Asp in KRT 5 gene as a cause of localized epidermolysis bullosa simplex
39. The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children
40. Lipoid proteinosis: different clinical features in two siblings
41. Genodermatozy – patogeneza i diagnostyka molekularna
42. Association between CEL-HYB1 allele and idiopathic/familial chronic pancreatitis in Polish pediatric patients
43. Etiology Of Chronic Pancreatitis In Children
44. Novel susceptibility genes candidates of chronic pancreatitis identified by whole exome sequencing
45. Molecular diagnostics of ichthyoses using genodermatoses-dedicated next generation sequencing panel in Polish patients
46. Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene
47. A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis
48. CEL-HYB allele in Polish patients with hereditary or idiopathic chronic pancreatitis
49. Whole exome sequencing reveals complex genotypes in hereditary and idiopathic chronic pancreatitis.
50. The analysis of clinical course of chronic pancreatitis related to R122C PRSS1 mutation in children in comparison with R122H PRSS1 mutation
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.