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    1. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    2. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    3. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    4. Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes Biochemical and Biophysical Research Communications · 2000 · 12 citations
    5. Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes 1998 · 74 citations
    6. Real-world safety of Tepotinib: Insights from the Food and Drug Administration Adverse Event Reporting System PLoS ONE · 2025 · 1 citations
    7. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    8. Isolation and Characterization of a Novel Hair Follicle–Specific Gene, Hacl-1 Journal of Investigative Dermatology · 1994 · 25 citations
    9. Structure of human type II 5 alpha-reductase gene Endocrinology · 1992 · 76 citations
    10. Structure of human type II 5 alpha-reductase gene. Endocrinology · 1992 · 124 citations
    11. Unexpected hair growth induced by gefitinib treatment in two patients with EGFR gene mutation-positive adenocarcinoma of the lung 2015 · 1 citations
    12. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    13. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    14. Increased androgen receptor messenger RNA in frontal-parietal hair follicles of women with androgenetic alopecia Genetics and Molecular Research · 2013 · 6 citations
    15. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008 · 24 citations
    16. 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
    17. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    18. Bacteria induce skin regeneration via IL-1β signaling Cell Host & Microbe · 2021 · 53 citations
    19. COVID‐19, androgens, and androgenic alopecia Dermatological reviews · 2020 · 6 citations
    20. 192 MicroRNAs and their regulatory interactions in the human hair follicle Journal of Investigative Dermatology · 2016
    21. The 5alpha-reductase type 1, but not type 2, gene is expressed in anagen hairs plucked from the vertex area of the scalp of hirsute women and normal individuals Brazilian Journal of Medical and Biological Research · 2003 · 17 citations
    22. National scientific medical meeting 1996 abstracts Irish Journal of Medical Science (1971 -) · 1996
    23. Characterization of Human KAP24.1, A Cuticular Hair Keratin-Associated Protein with Unusual Amino-Acid Composition and Repeat Structure 2007 · 51 citations
    24. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    25. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    26. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    27. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    28. GLP-1 Receptor Agonists: Beyond Their Pancreatic Effects Frontiers in Endocrinology · 2021 · 59 citations
    29. Oncogenic senescence: a multi-functional perspective Oncotarget · 2017 · 32 citations
    30. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations