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    Research 31–60 of 1000+

    1. Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male Pediatrics in Review · 2024
    2. Delayed Puberty Springer eBooks · 2016
    3. Persistent Hypoglycemia and Macrosomia in a Newborn Pediatrics in Review · 2026
    4. Fetal Arrhythmia with a Myriad of Complications NeoReviews · 2024
    5. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    6. Pallister-Killian Syndrome NeoReviews · 2024
    7. Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle Journal of veterinary medicine. Series A · 1989 · 11 citations
    8. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    9. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    10. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    11. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    12. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    13. Pathogenesis and causes of hirsutism 2006 · 1 citations
    14. Hair Loss in Children Elsevier eBooks · 2018
    15. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    16. The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor Genes & Development · 2001 · 178 citations
    17. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    18. Botulinum Toxin Off-Label Use in Dermatology: A Review Skin appendage disorders · 2017 · 53 citations
    19. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    20. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    21. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    22. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    23. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    24. Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia Acta Dermatovenerologica Alpina Pannonica et Adriatica · 2018 · 5 citations
    25. A Comprehensive Approach in Diagnosing the Polycystic Ovary Syndrome Women's Health · 2015 · 5 citations
    26. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    27. Clinical and trichoscopic features of early congenital syphilis: a single-center cross-sectional study Frontiers in Medicine · 2026
    28. Atrichia congenita with papular lesions: A rare cause of pediatric alopecia TURKDERM · 2025
    29. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    30. The Distribution of Preputial Vessels in Different Severity of Rat Congenital Hypospadias Model: Imaging study using Micro-Computerized Tomograph Research Square (Research Square) · 2019