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    Research 931–960 of 1000+

    1. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    2. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    3. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    4. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    5. Roles of tumor suppressors in regulating tumor-associated inflammation Cell Death & Differentiation · 2014 · 44 citations
    6. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    7. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    8. Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds Genetics selection evolution · 2019 · 30 citations
    9. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999 · 29 citations
    10. 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
    11. GENETIC CONTROL OF CYTOKINES Dermatologic clinics · 1996 · 23 citations
    12. 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
    13. Insertional mutation of the hairless locus on mouse Chromosome 14 Mammalian Genome · 1993 · 19 citations
    14. Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population Gene · 2013 · 15 citations
    15. Clonal analysis of stem cells in differentiation and disease Current Opinion in Cell Biology · 2016 · 11 citations
    16. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>) Veterinary pathology · 2010 · 10 citations
    17. Disease causing homozygous variants in the human hairless gene International Journal of Dermatology · 2015 · 7 citations
    18. The genetics of autism and steroid-related traits in prenatal and postnatal life Frontiers in Endocrinology · 2023 · 1 citations
    19. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    20. Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis Hormones · 2014 · 1 citations
    21. Pluripotent Stem Cell Technology: A Promising Remedy for Hypopigmentation Disorders Journal of Stem Cell Research & Therapeutics · 2017 · 1 citations
    22. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    23. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    24. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    25. Genetic variants in androgenetic alopecia: insights from scalp RNA sequencing data Archives of Dermatological Research · 2024
    26. Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study Journal of Thoracic Disease · 2023
    27. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    28. Phylloid terminal hair nevus: A unique clinical entity Pediatric Dermatology · 2018
    29. 1338 Dermal Wnt/β-catenin activation tunably controls hair follicle initiation Journal of Investigative Dermatology · 2018
    30. Genetics Poly Cystic Ovary Syndrome Asian Pacific journal of cancer biology · 2016