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    Research 151–180 of 1000+

    1. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    2. Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria International Journal of Clinical Medicine · 2014
    3. Inorganic Nanomaterial for Biomedical Imaging of Brain Diseases Molecules · 2021 · 13 citations
    4. Trichotillomania as a Manifestation of Dementia Case Reports in Psychiatry · 2016 · 8 citations
    5. A Review of the Most Common Dermatologic Conditions and their Debilitating Psychosocial Impacts International archives of internal medicine · 2019 · 7 citations
    6. Relationship between gut microbiota and osteoarthritis: a scientometric analysis Frontiers in Microbiology · 2025
    7. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    8. Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak Viruses · 2020 · 170 citations
    9. Targeting of Smoothened for therapeutic gain Trends in Pharmacological Sciences · 2014 · 105 citations
    10. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    11. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    12. Targeting integrin pathways: mechanisms and advances in therapy Signal Transduction and Targeted Therapy · 2023 · 54 citations
    13. Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health International Journal of Molecular Sciences · 2024 · 45 citations
    14. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production Journal of Investigative Dermatology · 2019 · 40 citations
    15. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    16. Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation Journal of Allergy and Clinical Immunology · 2019 · 34 citations
    17. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    18. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    19. Transcriptomic landscape of early hair follicle and epidermal development Cell Reports · 2023 · 23 citations
    20. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    21. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    22. Ptosis in childhood Medicine · 2018 · 15 citations
    23. Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia PloS one · 2018 · 14 citations
    24. 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
    25. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    26. Estimating the risk of irreversible post-SSRI sexual dysfunction (PSSD) due to serotonergic antidepressants Annals of General Psychiatry · 2023 · 11 citations
    27. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations
    28. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    29. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    30. Shedding light on cashmere goat hair follicle biology: from morphology analyses to transcriptomic landascape BMC genomics · 2020 · 8 citations