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    1. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    2. Adams–Oliver syndrome: new evidence in variable expressivity? International Journal of Dermatology · 2013
    3. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    4. PA33 When bones speak through nails: insights from a paediatric case series British Journal of Dermatology · 2025
    5. Cardiovascular disease risk in women with hyperandrogenism, oligomenorrhea/menstrual irregularity or polycystic ovaries (components of polycystic ovary syndrome): a systematic review and meta-analysis European heart journal open · 2023 · 3 citations
    6. Polycystic Ovary Syndrome, Insulin Resistance, and Obesity: Navigating the Pathophysiologic Labyrinth International journal of reproductive medicine · 2014 · 222 citations
    7. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    8. Severe cutaneous adverse reactions to drugs The Lancet · 2017 · 273 citations
    9. Interventional studies for polycystic ovarian syndrome in children and adolescents Pediatric Health · 2010 · 12 citations
    10. Insulin resistance and the long-term consequences of polycystic ovary syndrome Journal of Obstetrics and Gynaecology · 2011 · 29 citations
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