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    Research 691–720 of 1000+

    1. Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression Veterinary Pathology · 1997 · 69 citations
    2. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    3. HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice Brain and Behavior · 2022 · 3 citations
    4. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    5. Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature 2020 · 15 citations
    6. Trichothiodystrophy without associated neuroectodermal features in two siblings International Journal of Trichology · 2018 · 2 citations
    7. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    8. A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease Movement disorders clinical practice · 2022 · 1 citations
    9. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    10. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    11. Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency JCEM Case Reports · 2025
    12. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    13. Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis Cureus · 2024
    14. 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum Journal of Investigative Dermatology · 2021
    15. Early Onset Werner Syndrome Turkish Journal of Endocrinology and Metabolism · 2015
    16. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    17. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    18. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    19. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    20. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    21. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    22. Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries Clinical endocrinology · 2022 · 3 citations
    23. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    24. Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption American Journal of Case Reports · 2025
    25. Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report Cureus · 2025
    26. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year JCRPE · 2022 · 1 citations
    27. 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
    28. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    29. Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair" 2017
    30. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations