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    Research 151–180 of 1000+

    1. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    2. Targeting integrin pathways: mechanisms and advances in therapy Signal Transduction and Targeted Therapy · 2023 · 54 citations
    3. Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health International Journal of Molecular Sciences · 2024 · 45 citations
    4. 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
    5. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    6. 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
    7. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    8. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    9. Transcriptomic landscape of early hair follicle and epidermal development Cell Reports · 2023 · 23 citations
    10. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    11. 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
    12. Ptosis in childhood Medicine · 2018 · 15 citations
    13. Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia PloS one · 2018 · 14 citations
    14. 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
    15. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    16. Estimating the risk of irreversible post-SSRI sexual dysfunction (PSSD) due to serotonergic antidepressants Annals of General Psychiatry · 2023 · 11 citations
    17. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations
    18. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    19. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    20. Shedding light on cashmere goat hair follicle biology: from morphology analyses to transcriptomic landascape BMC genomics · 2020 · 8 citations
    21. Complex X chromosome rearrangement associated with multiorgan autoimmunity Molecular cytogenetics · 2015 · 8 citations
    22. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations European Journal of Human Genetics · 2023 · 5 citations
    23. The Hairdex Quality of Life Instrument—A Translation and Psychometric Validation in Patients with Alopecia Areata Skin Health and Disease · 2023 · 5 citations
    24. A rare cutis verticis gyrata secondary to cerebriform intradermal nevus: case report and literature review BMC surgery · 2021 · 5 citations
    25. Framework guidelines for the process of caring for the health of adolescent transgender (T) and non-binary (NB) people experiencing gender dysphoria — the position statement of the expert panel Endokrynologia Polska · 2025 · 4 citations
    26. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    27. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    28. Fibroblast bioelectric signaling drives hair growth Cell · 2025 · 3 citations
    29. Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children Applied Microscopy · 2021 · 3 citations
    30. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations