529 results on '"Borowiec, Maciej"'
Search Results
2. Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy
3. Psychiatric Comorbidities in Pediatric Monogenic Diabetes due to GCK Mutation: Impact on Diabetes-Related Quality of Life
4. RT-qPCR-based tests for SARS-CoV-2 detection in pooled saliva samples for massive population screening to monitor epidemics
5. Suggested mechanism of CCR5Δ32, CCR2-64I and SDF 1-3’A allele frequency change in Polish and Lithuanian gene pools from the perspective of passing time.
6. Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype
7. Bartter[StQuote]s syndrome as a forgotten cause of polyhydramnios
8. Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing
9. Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report.
10. Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study
11. Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening
12. Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage
13. Leukemia Inhibitory Factor: A Potential Biomarker and Therapeutic Target in Pancreatic Cancer
14. Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function
15. Bone changes on lateral cephalograms and CBCT during treatment of maxillary narrowing using palatal osteodistraction with bone-anchored appliances
16. MTHFR gene polymorphisms and serum homocysteine concentration in women with recurrent miscarriages.
17. Perforin gene variation influences survival in childhood acute lymphoblastic leukemia
18. Identification of placental genes linked to selective intrauterine growth restriction (IUGR) in dichorionic twin pregnancies: gene expression profiling study
19. SERS Signature of SARS-CoV-2 in Saliva and Nasopharyngeal Swabs: Towards Perspective COVID-19 Point-of-Care Diagnostics
20. Prenatal karyotype results from 2169 invasive tests.
21. Parkinson's disease gene therapy: a comparative effectiveness review of completed clinical trials in terms of their possible implementation in treatment
22. A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing – Clinical characteristics of mutation carriers
23. Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation
24. Decreased FOXP3 mRNA expression in children with atopic asthma and IgE-mediated food allergy
25. Sers Signature of SARS-CoV-19 Infected Saliva and Nasopharyngeal Swabs: Towards Perspective COVID-19 Point-of-Care Diagnostics
26. IL-33 and IL-4 impair barrier functions of human vascular endothelium via different mechanisms
27. The effect of interleukin-35 on the integrity, ICAM-1 expression and apoptosis of human aortic smooth muscle cells
28. Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes
29. Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters
30. Incomplete phenotypic presentation in a girl with rare Rabson–Mendenhall syndrome
31. Polymorphism in IKZF1 gene affects clinical outcome in diffuse large B-cell lymphoma
32. Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome
33. Genetic Factors of Diabetes
34. Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
35. Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis—Analysis of noninvasive and invasive test results
36. The effect of oxidized cholesterol on barrier functions and IL-10 mRNA expression in human intestinal epithelium co-cultured with dendritic cells in the transwell system
37. Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program
38. Clinical value of microRNA-19a-3p and microRNA-99a-5p in bladder cancer.
39. Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors
40. Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
41. Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
42. Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations inGLIS3gene
43. G870A Polymorphic Variants of CCND1 Gene and Cyclin D1 Protein Expression as Prognostic Markers in Laryngeal Lesions
44. Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes
45. Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics
46. Mutations at the BLK Locus Linked to Maturity Onset Diabetes of the Young and ß-Cell Dysfunction
47. Genetic Factors of Idiopathic Gigantomastia: Clinical Implications of Aromatase and Progesterone Receptor Polymorphisms
48. Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society
49. Evaluation of Changes to the Oral Microbiome Based on 16S rRNA Sequencing among Children Treated for Cancer
50. Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency
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