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    Research 181–210 of 1000+

    1. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    2. Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia Zenodo (CERN European Organization for Nuclear Research) · 2026
    3. Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia Zenodo (CERN European Organization for Nuclear Research) · 2026
    4. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    5. Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application † Micromachines · 2025 · 1 citations
    6. Clinical Snippets Journal of Investigative Dermatology · 2005
    7. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    8. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    9. Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus epidermidis Clonal Lineages Frontiers in Microbiology · 2019 · 37 citations
    10. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    11. Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017
    12. Policistisko olnīcu sindroms pusaudzēm – starppaaudžu, ģenētiskie, dzīves kvalitātes un negausīgas ēšanas aspekti. Promocijas darbs 2022
    13. COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine Mayo Clinic Proceedings · 2020 · 58 citations
    14. Genetic Association Between Polycystic Ovary Syndrome and the <i>APOA5</i> rs662799 and <i>PLIN1</i> rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study Biomarker Insights · 2024
    15. Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep Animals · 2024 · 3 citations
    16. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease Translational Psychiatry · 2021 · 12 citations
    17. Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus PLoS Genetics · 2006 · 184 citations
    18. Keratin disorders: from gene to therapy 2011 · 109 citations
    19. Neuregulin3 alters cell fate in the epidermis and mammary gland BMC developmental biology · 2007 · 39 citations
    20. Comparison of the acute ultraviolet photoresponse in congenic albino hairless C57BL/6J mice relative to outbred SKH1 hairless mice Experimental dermatology · 2016 · 8 citations
    21. Pitfalls of PCR-Based Strategy for Genotyping <i>Cre-Loxp</i> Mice BioTechniques · 2007 · 6 citations
    22. A population pharmacokinetic model for individualized regimens of finasteride according to CYP3A5 genotype and liver function Journal of pharmaceutical investigation · 2023
    23. [Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan]. PubMed · 2016
    24. Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits Genes · 2017 · 29 citations
    25. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    26. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    27. AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women Clinical & medical biochemistry · 2017
    28. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations
    29. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003 · 52 citations
    30. A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome Fertility and Sterility · 2000 · 20 citations