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    1. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes European journal of medical genetics · 2012 · 13 citations
    2. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    3. Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring Biomedical Research and Therapy · 2026
    4. Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity Reproductive Medicine and Biology · 2025 · 14 citations
    5. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    6. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    7. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    8. Ottawa, Ontario, Canada, February 13–16, 2013 The Journal of Rheumatology · 2013 · 4 citations
    9. Antimüllerian hormone to determine polycystic ovarian morphology Fertility and Sterility · 2021 · 21 citations
    10. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
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    1. Finasteride and male phenotypes Reddit · 12 Jun 2015

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