153 results on '"Bik-Multanowski, Mirosław"'
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2. Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins
3. Correction: Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins
4. Factors beyond Body Mass Index Associated with Cardiometabolic Risk among Children with Severe Obesity.
5. Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.
6. Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria
7. Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant
8. Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray?:-A Multicenter Retrospective Clinical Cohort Study
9. Increased nuchal translucency and associated chromosomal aberrations detected by array comparative genomic hybridisation (acgh) among patients referred to national polish prenatal screening program: A multicenter cohort study
10. The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria
11. Hyperoxia induces epigenetic changes in newborn mice lungs
12. Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets
13. Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowania
14. Long-term clinical effects of enzyme replacement therapy in MPS II
15. Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 gene
16. Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish–German study project on severe early-onset obesity
17. Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing—A Comprehensive Cohort Study of Associated Chromosomal Aberrations
18. Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL
19. Zastosowanie spektroskopii magnetycznego rezonansu jądrowego w celu oceny mózgowego stężenia fenyloalaniny u chorych na fenyloketonurię
20. The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
21. Concentrations of Insulin-like Growth Factors and Insulin-like Growth Factor-Binding Proteins and Respective Gene Expressions in Children before and after Hematopoietic Stem Cell Transplantation
22. COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers
23. The clinical role of vascular endothelial growth factor (VEGF) system in the pathogenesis of retinopathy of prematurity
24. The Expression of Genes Related to Lipid Metabolism and Metabolic Disorders in Children before and after Hematopoietic Stem Cell Transplantation—A Prospective Observational Study
25. Methylation and Expression of FTO and PLAG1 Genes in Childhood Obesity: Insight into Anthropometric Parameters and Glucose–Lipid Metabolism
26. Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1gene or of other origins
27. High Frequency of Fusion Gene Transcript Resulting From t(10;11)(p12;q23) Translocation in Pediatric Acute Myeloid Leukemia in Poland
28. Postępowanie z noworodkiem w przypadku podejrzenia choroby metabolicznej
29. INFLUENCE OF THE TYPE OF BIRTH AND NUTRITION DURING LACTATION ON THE DURATION OF THE BREASTFEEDING PERIOD IN POLAND.
30. Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria
31. The importance of cooperation between cytogenetic and molecular laboratory in the genetic testing of hemato-oncological diseases on the example of a pediatric patient with acute myeloid leukemia (AML)
32. Unfavorable Outcome of Neuroblastoma in Patients With 2p Gain
33. Wrodzone choroby metaboliczne
34. The importance of cooperation between cytogenetic and molecular laboratory in the genetic testing of hemato-oncological diseases on the example of a pediatric patient with acute myeloid leukemia (AML)
35. Techniki wspomagania rozrodu - aspekty genetyczne
36. Badania przesiewowe w kierunku wrodzonych błędów metabolizmu. [W : ogólne założenia do wprowadzania testów przesiewowych]
37. Dziedziczenie niemendlowskie. Epigenetyka
38. Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II
39. Early enzyme replacement therapy - hope for patients with mucopolysaccharidosis type II
40. Profil aminokwasowy osocza krwi chłopców z autyzmem
41. Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes
42. Comparison of whole genome expression profile between preterm and full-term newborns
43. The amino acid profile in blood plasma of young boys with autism
44. LONG-TERM TRENDS IN THE PREVALENCE OF CONGENITAL HEART DEFECTS IN PATIENTS WITH DOWN SYNDROME IN SOUTHERN POLAND.
45. Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria
46. 677C>T 5,10-methylenetetrahydrofolate reductase reductase (MTHFR) polymorphism and early toxicity of high-dose methotrexate in children treated for acute lymphoblastic leukemia
47. Komentarz do : rozpoznanie płodowego zespołu alkoholowego
48. Correction: Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1gene or of other origins
49. Use of computerized neuropsychological tests and nuclear magnetic resonance spectroscopy in clinical assessment of adult patients with phenylketonuria
50. The use of microarrays for gene expression analysis in premature children : new strategy of searching for genetic basis of late complications of prematurity : preliminary research
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