Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report.
Tahir M et al.
Case Reports in Oncological Medicine, 2024
Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.
Orzan F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_idenetified_in_Cohort2
A case report of multiple primary prostate tumors with differential drug sensitivity.
Wilkinson S et al.
Nature Communications, 2020
32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3
Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.
Santos LS et al.
Genes, 2019
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
Nakamura S et al.
Andrology, 2017
Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
Kappil M et al.
Anticancer Research, 2016
MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Clark N et al.
Current Genomics, 2013
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.
Stouffs K et al.
Reproductive Biomedicine Online, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.
Her C et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2007
Variants in the GH-IGF axis confer susceptibility to lung cancer.
Rudd MF et al.
Genome Research, 2006
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