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    Research 181–210 of 1000+

    1. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    2. Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome European Journal of Medical Genetics · 2025
    3. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    4. An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome IJEM case reports · 2023
    5. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    6. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    7. 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs) Journal of Investigative Dermatology · 2024
    8. Bachmann–Bupp syndrome and treatment 2023
    9. Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous? Experimental Dermatology · 2015 · 1 citations
    10. Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome Frontiers in endocrinology · 2020 · 29 citations
    11. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    12. New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice International journal of molecular sciences · 2022 · 8 citations
    13. Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome International journal of molecular sciences · 2022 · 1 citations
    14. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    15. When whorls collide: the development of hair patterns in frizzled 6 mutant mice Development · 2010 · 55 citations
    16. Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health International Journal of Molecular Sciences · 2024 · 45 citations
    17. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    18. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    19. Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity Biochimica and biophysica acta. Molecular and cell biology of lipids · 2023
    20. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    21. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    22. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    23. Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells Medical Sciences · 2017 · 37 citations
    24. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    25. The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i> G3 Genes Genomes Genetics · 2021 · 29 citations
    26. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    27. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    28. 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
    29. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations
    30. p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials Cell Death Discovery · 2026