383 results on '"Tan, Yue-Qiu"'
Search Results
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. CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
5. The PIWI-specific insertion module helps load longer piRNAs for translational activation essential for male fertility
6. Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results
7. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
8. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression
9. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice
10. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility
11. Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models
12. The de novo aberration rate of prenatal karyotype was comparable between 1496 fetuses conceived via IVF/ICSI and 1396 fetuses from natural conception
13. Tim-3: An inhibitory immune checkpoint is associated with maternal-fetal tolerance and recurrent spontaneous abortion
14. Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts
15. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice
16. Non-invasive preimplantation genetic testing for conventional IVF blastocysts
17. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
18. Novel variants of the PCCB gene in Chinese patients with propionic acidemia
19. Reproductive risks and preimplantation genetic testing intervention for X–autosome translocation carriers
20. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility
21. Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia
22. A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
23. Genetic underpinnings of asthenozoospermia
24. A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia
25. 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
26. Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia
27. Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement
28. The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction
29. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia
30. Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD
31. Neonatal outcomes of live births after blastocyst biopsy in preimplantation genetic testing cycles: a follow-up of 1,721 children
32. Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans
33. Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome
34. Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes
35. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
36. Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China
37. Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias
38. Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
39. Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
40. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia
41. C9orf131 and C10orf120 are not essential for male fertility in humans or mice
42. Effect of thyroid autoimmunity per se on assisted reproduction treatment outcomes: A meta-analysis
43. Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella
44. Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype
45. Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA
46. A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility
47. Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis
48. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility
49. Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
50. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
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