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1. Frequency, morbidity and equity - the case for increased research on male fertility

3. A de novo paradigm for male infertility

4. Diverse monogenic subforms of human spermatogenic failure

5. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans

6. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

7. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

8. A global approach to addressing the policy, research and social challenges of male reproductive health

9. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

10. Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

12. Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development

13. Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

14. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

15. Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

16. Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

17. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

18. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

19. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

20. Pathogenic or not? Assessing the clinical relevance of copy number variants

23. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

24. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

25. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

26. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

27. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus

28. MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

29. Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

36. Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease

37. A missense mutation underlies defective SOCS4 function in a family with autoimmunity

38. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

40. Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

41. Current global status of male reproductive health.

42. Improved phenotypic classification of male infertility to promote discovery of genetic causes.

43. Frequency, morbidity and equity - the case for increased research on male fertility.

44. De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.

45. Diverse monogenic subforms of human spermatogenic failure.

46. Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.

47. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

48. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.

49. De novo mutations in children born after medical assisted reproduction.

50. A de novo paradigm for male infertility.

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