20 Matching Annotations
  1. Aug 2025
  2. www.sciencedirect.com www.sciencedirect.com
    Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility
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    sciencedirect.com/science/article/pii/S2352396425003433
  3. Jul 2025
  4. www.biorxiv.org www.biorxiv.org
    Bi-allelic mutations in KCTD11 cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease
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    biorxiv.org/content/10.1101/2025.06.30.661538v1
  5. Apr 2025
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition
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    pmc.ncbi.nlm.nih.gov/articles/PMC11995001/
  7. Feb 2025
  8. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/3f15b87d98f941e9a84b5e41f881bf902254c0f2/PDF-html.html
  9. Jul 2024
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
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    pmc.ncbi.nlm.nih.gov/articles/PMC11278020/
  11. Jul 2023
  12. www.sciencedirect.com www.sciencedirect.com
    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
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    sciencedirect.com/science/article/pii/S2589004223012701
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  14. Jun 2023
  15. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  16. Feb 2023
  17. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  18. Apr 2022
  19. journals.physiology.org journals.physiology.org
    Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome
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    journals.physiology.org/doi/full/10.1152/physiolgenomics.00132.2021
  20. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
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    link.springer.com/article/10.1007/s13258-022-01249-6
  21. jeccr.biomedcentral.com jeccr.biomedcentral.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
    1
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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  22. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  23. Oct 2021
  24. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
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    link.springer.com/article/10.1007/s00439-021-02372-2
  25. Jul 2021
  26. www.sciencedirect.com www.sciencedirect.com
    Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
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    sciencedirect.com/science/article/pii/S0002929715004152
  27. May 2021
  28. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
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    sciencedirect.com/science/article/pii/S0147027220301033
  29. Mar 2021
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  31. Sep 2020
  32. link.springer.com link.springer.com
    Prediction and in silico validation of MYH7 gene missense variants in the Iranian population: a bioinformatics analysis based on Iranome database
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    link.springer.com/article/10.1186/s43042-020-00058-4
  33. Jan 2020
  34. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
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    onlinelibrary.wiley.com/doi/abs/10.1111/jnc.14828