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    Research 481–510 of 1000+

    1. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    2. Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa The American Journal of Human Genetics · 1997 · 80 citations
    3. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    4. Differential Expression of miR-93 and miR-21 in Granulosa Cells and Follicular Fluid of Polycystic Ovary Syndrome Associating with Different Phenotypes Scientific Reports · 2017 · 54 citations
    5. Transfection of rat dermal papilla cells with a gene encoding a temperature-sensitive polyomavirus large T antigen generates cell lines retaining a differentiated phenotype Journal of Cell Science · 1994 · 25 citations
    6. Clinical and laboratory indicators of polycystic ovary syndrome in Chinese Han nationality with different Rotterdam criteria-based phenotypes Gynecological Endocrinology · 2015 · 9 citations
    7. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities Archives of Dermatological Research · 2012 · 6 citations
    8. Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype Experimental dermatology · 2021 · 5 citations
    9. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    10. 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice Journal of Investigative Dermatology · 2016 · 2 citations
    11. Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype Research Square (Research Square) · 2020 · 1 citations
    12. 127 Quality of life in patients with connective tissue diseases: results from the Lupus Extended Autoimmune Phenotype (LEAP) study Rheumatology · 2018 · 1 citations
    13. Anti-Müllerian Hormone and Ovarian Morphology in Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS): Toward More Precise Diagnosis and Phenotype Stratification Biomedical and Therapeutics Letters · 2026
    14. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    15. Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype International Journal of Research in Medical Sciences · 2023
    16. TU55. EXPLORING THE GENOMIC RELATIONSHIP BETWEEN TWO MAJOR DETERMINANT PHENOTYPES OF PSYCHIATRIC DISORDERS: HUMAN GUT MICROBIOME AND SLEEP TRAITS European Neuropsychopharmacology · 2021
    17. LB789 Novel IFNγ aptamer TAGX-0003 protected hair follicles from immune privilege collapse and reversed Alopecia Areata like phenotype in humanized mouse model 2021
    18. Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype Journal of Investigative Dermatology · 1999
    19. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    20. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    21. Early onset androgenic alopecia: not a cosmetic problem but a sign of life time risk factors. Male phenotypic equivalent of polycystic ovarian syndrome: Is There a Male Phenotype of PCOS Medical Science and Discovery · 2021
    22. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    23. Anti-androgen therapy in polyendocrine metabolic ovary syndrome (PMOS, formerly PCOS): efficacy, safety, and phenotype-oriented clinical decision-making Journal of Ovarian Research · 2026
    24. The immunology of the porcine skin and its value as a model for human skin Molecular immunology · 2014 · 353 citations
    25. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    26. Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth Human Reproduction Update · 2005 · 179 citations
    27. Human Wharton’s Jelly Mesenchymal Stem Cells Plasticity Augments Scar-Free Skin Wound Healing with Hair Growth PloS one · 2014 · 102 citations
    28. Macrophages in Skin Wounds: Functions and Therapeutic Potential Biomolecules · 2022 · 56 citations
    29. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    30. Biomaterial-based mechanical regulation facilitates scarless wound healing with functional skin appendage regeneration Military Medical Research · 2024 · 37 citations