371 results on '"Tan, Yue-Qiu"'
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2. Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella
3. Extended application of PGT-M strategies for small pathogenic CNVs
4. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression
5. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice
6. The PIWI-specific insertion module helps load longer piRNAs for translational activation essential for male fertility
7. Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results
8. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
9. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility
10. Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models
11. The de novo aberration rate of prenatal karyotype was comparable between 1496 fetuses conceived via IVF/ICSI and 1396 fetuses from natural conception
12. Tim-3: An inhibitory immune checkpoint is associated with maternal-fetal tolerance and recurrent spontaneous abortion
13. Non-invasive preimplantation genetic testing for conventional IVF blastocysts
14. Novel variants of the PCCB gene in Chinese patients with propionic acidemia
15. Genetic underpinnings of asthenozoospermia
16. Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia
17. Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement
18. A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
19. A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia
20. A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination
21. Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia
22. The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction
23. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia
24. Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD
25. Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes
26. Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans
27. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
28. Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China
29. Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
30. Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
31. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia
32. C9orf131 and C10orf120 are not essential for male fertility in humans or mice
33. Effect of thyroid autoimmunity per se on assisted reproduction treatment outcomes: A meta-analysis
34. Neonatal Outcomes of Live Births After Blastocyst Biopsy in Preimplantation Genetic Testing Cycles: A Follow-up of 1721 Children
35. Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella
36. Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype
37. Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA
38. A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility
39. Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis
40. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility
41. Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts
42. Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
43. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
44. Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia
45. Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations
46. Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment
47. Study of the Sperm Chromosomal Aneuploidies of Isolated Teratozoospermic Men
48. Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia
49. BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
50. Additional file 2 of Non-invasive preimplantation genetic testing for conventional IVF blastocysts
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