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    Research 91–120 of 1000+

    1. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    2. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    3. The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion Scientific Reports · 2017 · 23 citations
    4. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    5. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice Journal of cell science · 2023 · 2 citations
    6. Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor Springer eBooks · 2016
    7. Use of genetics in the prediction of success in male pattern hair loss therapy and mechanistic studies Frontiers in Pharmacology · 2026
    8. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    9. Morpho‐regulation in diverse chicken feather formation: Integrating branching modules and sex hormone‐dependent morpho‐regulatory modules Development, Growth & Differentiation · 2018 · 13 citations
    10. Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts Forum Dermatologicum · 2026
    11. 316 Specialized ribosomes in human dermal fibroblast senescence Journal of Investigative Dermatology · 2019
    12. Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism S. Karger AG eBooks · 2014
    13. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    14. sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome Scientific Reports · 2026
    15. Predicting Human Appearance from DNA for Forensic Investigations Security science and technology · 2016 · 5 citations
    16. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    17. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    18. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    19. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    20. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    21. Dermatologia e Procedimentos Estéticos Ed. XXVII Editora Pasteur eBooks · 2025
    22. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    23. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    24. Clonal analysis of stem cells in differentiation and disease Current Opinion in Cell Biology · 2016 · 11 citations
    25. S2926 Hepatic Steatosis and Acute Liver Injury in Chronic Arsenic Exposure The American Journal of Gastroenterology · 2022 · 1 citations
    26. Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ 2016
    27. Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat Animals · 2024 · 15 citations
    28. Pilomatrix Carcinoma: Report of Two Cases of the Head and Review of the Literature Current Oncology · 2023 · 12 citations
    29. Mechanisms of proton inhibition and sensitization of the cation channel TRPV3 The Journal of General Physiology · 2020 · 15 citations
    30. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations