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    Research 511–540 of 1000+

    1. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations
    2. Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors Psychoneuroendocrinology · 2018 · 14 citations
    3. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    4. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    5. Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele Genetics · 2002 · 11 citations
    6. Experimental cutaneous Bacillus anthracis infections in hairless HRS/J mice International journal of experimental pathology · 2007 · 8 citations
    7. Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development Development · 2022 · 7 citations
    8. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    9. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations
    10. TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome Journal of Dermatological Science · 2016 · 2 citations
    11. Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia Acta dermato-venereologica · 2023 · 1 citations
    12. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    13. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    14. Buschke-Ollendorff syndrome British Journal of Dermatology · 2016 · 1 citations
    15. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    16. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
    17. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    18. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    19. The Naked (N) Mutation, Chromosome 15 2020
    20. 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24 2017
    21. Colon Cancer Prevention and Its Transcriptomics‐Based Identification of Molecular Mechanisms by Dietary Intake of Soy Food The FASEB Journal · 2017
    22. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    23. The Case | Bilateral kidney tumors and lung cysts Kidney international · 2013
    24. Informàtica i Dret penal: Els delictes relatius a la informàtica Studia iuridica · 1996
    25. 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
    26. Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene FEBS Letters · 1991 · 14 citations
    27. An in vivo method for the detection of somatic mutations at the cellular level in mice 1982 · 11 citations
    28. Claudin tight junctionwhat's your function? The role of Claudin 6 in epidermal and hair follicle differentiation uO Research (University of Ottawa) · 2004
    29. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    30. Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice* Endocrinology · 2001 · 73 citations