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    Research 451–480 of 1000+

    1. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    2. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    3. Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study Immunological Investigations · 2020 · 7 citations
    4. Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes Genetics Research · 1985 · 7 citations
    5. Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study The application of clinical genetics · 2019 · 6 citations
    6. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities Archives of Dermatological Research · 2012 · 6 citations
    7. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    8. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    9. Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach Research Square (Research Square) · 2022 · 1 citations
    10. The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women Medico-Legal Update · 2021
    11. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    12. <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia American Journal of Medical Genetics Part A · 2024
    13. Deciphering the pathogenesis of central centrifugal cicatricial alopecia 2019
    14. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    15. Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil Research Square (Research Square) · 2022
    16. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    17. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    18. Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood 2012 · 12 citations
    19. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    20. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    21. Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat Research Square (Research Square) · 2021 · 2 citations
    22. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    23. P62 Pre-clinical pharmacological and skin penetration profile of LDE255, a novel and specific Smoothened antagonist Melanoma research · 2010
    24. Werewolf, there wolf: variants in <i>Hairless</i> associated with hypotrichia and roaning in the lykoi cat breed bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 3 citations
    25. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    26. Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice Mechanisms of development · 2005 · 63 citations
    27. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    28. Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice MDPI (MDPI AG) · 2026
    29. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    30. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025