49 results on '"Bukowska‐Olech, Ewelina"'
Search Results
2. Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract
3. Chromatinopathies: insight in clinical aspects and underlying epigenetic changes
4. Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism
5. Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
6. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions
7. From chromosomal aberrations to mutations in individual genes – the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.
8. The pediatric common variable immunodeficiency — from genetics to therapy: a review
9. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
10. Position effects at the FGF8 locus are associated with femoral hypoplasia
11. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
12. Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
13. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
14. Development of a tool for predicting HNF1B mutations in children with congenital anomalies of the kidneys and urinary tract – a retrospective multicenter study
15. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
16. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
17. Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
18. Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing
19. WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy
20. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
21. Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects
22. Additional file 4 of SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
23. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
24. The pediatric common variable immunodeficiency — from genetics to therapy: a review
25. Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly
26. Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies
27. Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing.
28. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia
29. Changes in human airway cells transcriptome during epithelial wound repair
30. Additional file 1 of Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
31. Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions
32. Position effects at the FGF8 locus are associated with femoral hypoplasia
33. Transcriptomic profiling as biological markers of depression – A pilot study in unipolar and bipolar women
34. The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 Gene
35. Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression
36. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants inWDR35
37. Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
38. Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
39. Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
40. The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
41. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants inWDR35
42. SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)
43. Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion
44. A novel biallelic splice‐site variant in theLRP4gene causes sclerosteosis 2
45. Additional file 1 of Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
46. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
47. A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 2.
48. Additional file 2 of Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
49. Additional file 2 of Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.