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    Research 211–240 of 1000+

    1. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    2. A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders Experimental Dermatology · 2026
    3. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    4. Managing Cutaneous Manifestations of Hyperandrogenic Disorders Treatments in endocrinology · 2002 · 22 citations
    5. Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration Frontiers in Medicine · 2022
    6. Editors' Picks Journal of Investigative Dermatology · 2010
    7. Identification and characterization of genes for skin and hair disorders bonndoc (University of Bonn) · 2026
    8. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    9. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    10. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    11. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    12. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    13. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    14. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    15. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    16. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    17. Zebrafish Model of Hereditary Pigmentary Disorders International Journal of Dermatology and Venereology · 2019 · 1 citations
    18. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    19. [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II 2022
    20. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    21. SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT Advances in neonatal care · 2003 · 46 citations
    22. Follicular and Scarring Disorders in Skin of Color: Presentation and Management American Journal of Clinical Dermatology · 2014 · 30 citations
    23. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    24. Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients Children · 2024 · 2 citations
    25. Surgical approach of ectropion in lamellar ichthyosis Journal of The American Academy of Dermatology · 2010
    26. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles Journal of Investigative Dermatology · 2002 · 53 citations
    27. Loose Anagen Hair Syndrome in Black‐Haired Indian Children Pediatric Dermatology · 2013 · 8 citations
    28. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    29. The molecular basis of human keratin disorders Human Genetics · 2009 · 79 citations
    30. 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