137 results on '"Nagirnaja, Liina"'
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2. Toward clinical exomes in diagnostics and management of male infertility
3. DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia
4. C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line
5. Undiagnosed RASopathies in infertile men
6. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
7. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
8. Diverse monogenic subforms of human spermatogenic failure
9. Utility of exome sequencing in primary spermatogenic disorders: From research to diagnostics.
10. AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans
11. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
12. The origins and functional effects of postzygotic mutations throughout the human life span
13. DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice
14. Zinc finger RNA binding protein 2 (ZFR2) is not required for male fertility in the mouse
15. Diverse Monogenic Subforms of Human Spermatogenic Failure
16. Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
17. A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage
18. A de novo paradigm for male infertility
19. Human INHBB gene variant (c.1079T>C:p.Met360Thr) alters testis germ cell content, but does not impact fertility in mice
20. The origins and functional effects of postzygotic mutations throughout the human lifespan
21. Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
22. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
23. Variant PNLDC1, Defective piRNA Processing, and Azoospermia
24. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
25. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships
26. Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage
27. A de novo paradigm for male infertility
28. The Sertoli cell expressed gene secernin‐1 ( Scrn1 ) is dispensable for male fertility in the mouse
29. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
30. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
31. Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit
32. Methylation Allelic Polymorphism (MAP) in Chorionic Gonadotropin β5 (CGB5) and Its Association with Pregnancy Success
33. Variants in PIWIL1 Do Not Play a Major Role in Human Male Infertility
34. Chorionic Gonadotropin β-Gene Variants Are Associated with Recurrent Miscarriage in Two European Populations
35. Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin beta gene cluster
36. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
37. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
38. Genetic intersection of male infertility and cancer
39. How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility
40. Response to “Annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?”
41. Annexin A5 Promoter Haplotype M2 Is Not a Risk Factor for Recurrent Pregnancy Loss in Northern Europe
42. Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families
43. Inimese luteiniseeriva hormooni ja kooriongonadotropiini beeta-subühiku geeniperekond: struktuur ja potentsiaalne seotus korduvate spontaanabortidega
44. Genetics of Recurrent Miscarriage: Challenges, Current Knowledge, Future Directions
45. Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci
46. Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin β gene cluster
47. Human INHBBGene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice
48. Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
49. Annexin A5 geeni promootori haplotüüpide seos korduva raseduse katkemisega Eesti ja Taani naistel
50. AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
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