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  • Genes that escape from Xâ chromosome inactivation: Potential . . .
    We will review the evidence for genes that escape from XCI; which genes escape from XCI and how they might contribute to Klinefelter syndrome (KS); and what we understand about how genes escape silencing and contribute to sex differences
  • Epigenetics and genomics in Klinefelter syndrome
    Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis
  • Klinefelter syndrome (KS): genetics, clinical phenotype and . . .
    KS is associated with several clinical conditions coming from both the genetic abnormalities and hypogonadism The aim of this review is to discuss KS clinical features according with the genetic and hormonal (low testosterone) factors involved in their pathogenesis
  • Klinefelter syndrome - NHS
    Klinefelter syndrome is caused by an additional X chromosome This chromosome carries extra copies of genes, which may interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual
  • DNA hypermethylation and differential gene expression associated with . . .
    Gene set enrichment analysis of differentially methylated positions yielded terms associated with well-known comorbidities seen in KS In addition, differentially expressed genes revealed
  • Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single . . .
    Klinefelter syndrome (KS) is the most frequent genetic anomaly in infertile men Given its unclear mechanism, we aim to investigate critical genes and pathways in the pathogenesis of KS based on three bulk and one single-cell transcriptome data sets from Gene Expression Omnibus
  • Klinefelter Syndrome: Understanding The Genetic Etiology, Pathogenesis . . .
    This review aims to educate medical professionals and researchers on the most recent advancements in the diagnosis and treatment of Klinefelter syndrome by recognizing the complicated and multifaceted character of this disorder
  • New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and . . .
    New opportunities for improving fertility and the general health outcomes in boys and men with KS are rapidly developing Research gaps include better phenotyping, risk stratification, and understanding of the mechanisms sustaining the variability in the presentation of the syndrome
  • Klinefelter syndrome
    Treatment of Klinefelter syndrome (KS) focuses on testosterone replacement therapy (from adolescence onward), together with neuropsychological and adaptive therapies tailored to the individual’s age and symptoms





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