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    Research 181–210 of 836

    1. 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
    2. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    3. Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients Medicina · 2024 · 1 citations
    4. Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds Genetics selection evolution · 2019 · 30 citations
    5. Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review Frontiers in Pharmacology · 2023 · 1 citations
    6. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    7. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    8. From bedside to bench: regulation of host factors in SARS-CoV-2 infection Experimental and Molecular Medicine · 2021 · 4 citations
    9. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    10. Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients Clinical Cosmetic and Investigational Dermatology · 2025
    11. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003 · 52 citations
    12. The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion Scientific Reports · 2017 · 23 citations
    13. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    14. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007 · 42 citations
    15. Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function Molecular Medicine · 2004 · 31 citations
    16. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    17. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    18. The ITGB6 gene: its role in experimental and clinical biology Gene · 2019 · 28 citations
    19. Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China Molecular Biology and Evolution · 2020 · 27 citations
    20. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    21. Expression and Distribution of the Guanine Nucleotide-binding Protein Subunit Alpha-s in Mice Skin Tissues and Its Association with White and Black Coat Colors Asian-Australasian journal of animal sciences · 2016 · 1 citations
    22. Steatocystomas: Update on Clinical Manifestations, Diagnosis, and Management Cutis · 2025
    23. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    24. Australasian Society for Dermatology Research Meeting, May 2006 Journal of Investigative Dermatology · 2007
    25. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    26. Seasonal Variability in Transcript Expression of Type I and Type II Keratins in Wool Follicles of Lustrous Fleece-Producing Magra Sheep Journal of Natural Fibers · 2023 · 1 citations
    27. Acute Localised Exanthematous Pustulosis Indian Journal of Dermatology · 2022 · 3 citations
    28. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    29. Ehlers-Danlos syndrome: From bedside to bench Frontiers research topics · 2024
    30. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025