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    Research 271–300 of 1000+

    1. Primary cicatricial alopecias Expert Review of Dermatology · 2010 · 1 citations
    2. Fibrosing Frontal Alopecia: A comprehensive study to understand its etiology International Seven Journal of Multidisciplinary · 2024
    3. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    4. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    5. Severe metabolic disorders coexisting with Werner syndrome: a case report Endocrine journal · 2020 · 6 citations
    6. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    7. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    8. A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome Journal of Dermatological Science · 2016
    9. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    10. Dermatologic Disorders CRC Press eBooks · 2018
    11. Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration Frontiers in Medicine · 2022
    12. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    13. Disorders of Hair Pigmentation CRC Press eBooks · 2021
    14. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    15. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    16. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    17. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    18. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    19. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    20. Zebrafish Model of Hereditary Pigmentary Disorders International Journal of Dermatology and Venereology · 2019 · 1 citations
    21. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    22. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    23. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    24. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    25. [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II 2022
    26. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    27. SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT Advances in neonatal care · 2003 · 46 citations
    28. Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant Cureus · 2025
    29. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    30. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations