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56 results on '"Lucjusz Jakubowski"'

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1. New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

2. Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

3. 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

4. Air Pollution and Human Sperm Sex Ratio

5. Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

6. Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

7. The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia

8. Fetal macrosomia, polyhydramnios and cardiac anomalies may be helpful to predict poor outcome in neonate – case report of a possible fetal RASopathy with sonographic and neonatal findings and genetic evaluation

9. Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes

10. New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

11. Fetal Macrosomia, Polyhydramnios and Cardiac Anomalies may be Helpful to Predict Poor Outcome in Neonate – Case Report of a Possible Fetal Rasopathy with Sonographic and Neonatal Findings and Genetic Evaluation

12. Environmental exposure to parabens and sperm chromosome disomy

13. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

14. Folate status, regulatory T cells and MTHFR C677T polymorphism study in allergic children

15. Exposure to widespread environmental endocrine disrupting chemicals and human sperm sex ratio

16. Rodzinna częściowa lipodystrofia w diagnostyce różnicowej zespołu policystycznych jajników

17. The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

18. The association between environmental exposure to pyrethroids and sperm aneuploidy

19. Zespół mikrodelecji 22q11.2 (zespół DiGeorge’a) bez współistniejącej wady serca – analiza fenotypu pacjentów i problemy diagnostyczne

20. Occupational risk factors and frequency of sex chromosome disomy

21. Air Pollution and Human Sperm Sex Ratio

22. The relationship between exposure to air pollution and sperm disomy

23. Human urinary phthalate metabolites level and main semen parameters, sperm chromatin structure, sperm aneuploidy and reproductive hormones

24. PILLARS OF INITIATIVE 'POLAND FOR RARE DISEASES'. FILARY INICJATYWY 'POLSKA DLA CHORÓB RZADKICH'

25. P281 Exposure to widespread environmental endocrine disrupting chemicals and human sperm sex ratio

26. Influence of MRI contrast media on histamine release from mast cells

27. Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

28. Severe neonatal spondylometaphyseal dysplasia in two siblings

29. Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

30. Regulatory influence of melatonin on collagen accumulation in the infarcted heart scar

31. Copper/zinc superoxide dismutase (SOD-1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21

32. Dietary Patterns and the Frequency of Disomy in Human Sperm

33. Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome

34. Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

35. The relationship between exposure to air pollution and sperm disomy

36. Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction

37. Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods

38. Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)

39. [The role of the connective tissue in healing process in myocardial infarction]

40. [Diaphragmatic hernia in reference hospital ICZMP--diagnostic problems and outcome]

41. [High risk of atherosclerosis in men aged 20-39 from Lodz agglomeration]

42. Human sperm aneuploidy after exposure to polycyclic aromatic hydrocarbons

43. De novo direct Tandem duplication of the short arm of chromosome 7(p21.1-p14.2)

44. [Prenatal ultrasound findings in complete trisomy 9]

45. [Nasal bone biometry in the second trimester of gestation]

46. [Genetic aspects of polycystic ovary syndrome]

47. Molecular methods for rapid detection of aneuploidy

48. Two familial 9;17 translocations with variable effect on male carriers fertility

49. OP03.07: Echocardiographic and sonographic markers of fetal Turner syndrome in second half of pregnancy

50. Xp;Yp translocation inherited from the father in an SRY, RBM, and TSPY positive true hermaphrodite with oligozoospermia

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