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    Research 781–810 of 1000+

    1. Farmácia Padrão da Légua, Custóias e nos Serviços Farmacêuticos da Klinicka Bolnica Dubrava, Croácia Open Repository of the University of Porto (University of Porto) · 2024
    2. Millets as a Novel Solution for PCOS Management: a Review International Journal For Multidisciplinary Research · 2023
    3. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population Neurological Sciences · 2015 · 21 citations
    4. Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression Veterinary Pathology · 1997 · 69 citations
    5. 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
    6. HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice Brain and Behavior · 2022 · 3 citations
    7. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    8. 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
    9. Trichothiodystrophy without associated neuroectodermal features in two siblings International Journal of Trichology · 2018 · 2 citations
    10. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    11. A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease Movement disorders clinical practice · 2022 · 1 citations
    12. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    13. 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
    14. Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency JCEM Case Reports · 2025
    15. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    16. Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis Cureus · 2024
    17. 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum Journal of Investigative Dermatology · 2021
    18. Early Onset Werner Syndrome Turkish Journal of Endocrinology and Metabolism · 2015
    19. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    20. 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
    21. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    22. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    23. Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries Clinical endocrinology · 2022 · 3 citations
    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. 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
    26. 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
    27. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    28. Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair" 2017
    29. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    30. 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