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    Research 121–150 of 1000+

    1. A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT Pediatric Research · 1974
    2. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    3. Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation Australasian Journal of Dermatology · 2016 · 1 citations
    4. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. PubMed · 2008 · 2 citations
    5. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    6. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis Annals of Neurology · 2001 · 43 citations
    7. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    8. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    9. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    10. 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
    11. 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
    12. Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors Psychoneuroendocrinology · 2018 · 14 citations
    13. 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
    14. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    15. Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele Genetics · 2002 · 11 citations
    16. Experimental cutaneous Bacillus anthracis infections in hairless HRS/J mice International journal of experimental pathology · 2007 · 8 citations
    17. Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development Development · 2022 · 7 citations
    18. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    19. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
    20. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations
    21. TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome Journal of Dermatological Science · 2016 · 2 citations
    22. 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
    23. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    24. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    25. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    26. Buschke-Ollendorff syndrome British Journal of Dermatology · 2016 · 1 citations
    27. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    28. 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
    29. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    30. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021