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    Research 301–330 of 866

    1. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    2. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    3. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    4. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    5. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    6. Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA 2018 · 3 citations
    7. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    8. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    9. Keratin disorders: from gene to therapy 2011 · 109 citations
    10. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    11. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    12. 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
    13. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    14. Cantú syndrome with coexisting familial pituitary adenoma Endocrine · 2018 · 14 citations
    15. Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason 2021 · 2 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. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    18. Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome European Journal of Medical Genetics · 2025
    19. https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/# 2020
    20. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    21. Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor Biomolecules · 2023
    22. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    23. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    24. <i>WNT10A</i> , dermatology and dentistry British Journal of Dermatology · 2021 · 30 citations
    25. Genetically separable determinants of hair keratin gene expression Developmental Dynamics · 2000 · 27 citations
    26. Keratin expression by corneal and limbal stem cells during development 2020 · 25 citations
    27. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    28. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations
    29. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease Translational Psychiatry · 2021 · 12 citations
    30. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations