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    1. POS0548 ACUTE AND SUBACUTE SKIN MANIFESTATIONS OF SYSTEMIC LUPUS ERYTHEMATOSUS ARE ASSOCIATED WITH AN EARLIER RESPONSE TO BELIMUMAB THAN THE CHRONIC PHENOTYPE: PRELIMINARY DATA FROM THE NEW NATION-WIDE COHORT OF BELIMUMAB IN REAL LIFE SETTING STUDY—NEW JOINT AND SKIN (BERLISS-NEJS) 2024
    2. The Effect of Alfacalcidiol and Metformin on Phenotype Manifestations in Women with Polycystic Ovary Syndrome – a Preliminary Study Physiological Research · 2016 · 14 citations
    3. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    4. A protocol for assessment of interventions using a computational phenotype for Long COVID medRxiv · 2026
    5. CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia Hormone and Metabolic Research · 2013 · 14 citations
    6. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    7. Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review Clinical Medicine Insights Case Reports · 2025
    8. Skin deep: dermatologic challenges in PCOS through the female lifespan Expert Review of Endocrinology & Metabolism · 2026
    9. PO:17:252 | The choice between belimumab and anifrolumab: analysis of a monocentric cohort DOAJ (DOAJ: Directory of Open Access Journals) · 2025
    10. Phenotypic comparison of Caucasian and Asian women with polycystic ovary syndrome: a cross-sectional study Fertility and Sterility · 2013 · 28 citations
    11. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003 · 52 citations
    12. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    13. Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity Reproductive Medicine and Biology · 2025 · 14 citations
    14. Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene Clinical Pediatric Endocrinology · 1992 · 3 citations
    15. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    16. Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study 2023
    17. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    18. Uncombable hair syndrome and beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022
    19. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    20. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    21. A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report Pediatric rheumatology online journal · 2024
    22. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    23. Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study Journal of The American Academy of Dermatology · 2017 · 2 citations
    24. Role of Dehydroepiandrosterone (DHEA) in the Pathophysiology and Clinical Manifestations of Polycystic Ovary Syndrome (PCOS) International Journal of Forest Animal and Fisheries Research · 2025
    25. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    26. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    27. 127 Quality of life in patients with connective tissue diseases: results from the Lupus Extended Autoimmune Phenotype (LEAP) study Rheumatology · 2018 · 1 citations
    28. Clinical features and presentation of polycystic ovary syndrome Elsevier eBooks · 2023
    29. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    30. Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome JAMA Dermatology · 2015 · 33 citations