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    Research 61–90 of 1000+

    1. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    2. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    3. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type Journal of Medical Genetics · 2006 · 60 citations
    4. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    5. Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse Experimental Biology and Medicine · 1975 · 23 citations
    6. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    7. FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis Gene · 2017 · 17 citations
    8. Scraggly, a new hair loss mutation on mouse Chromosome 19 Mammalian genome · 1999 · 14 citations
    9. 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
    10. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    11. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    12. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    13. 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
    14. 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
    15. Characterization of a mouse Scube3 reporter line Genesis · 2010 · 7 citations
    16. Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study The application of clinical genetics · 2019 · 6 citations
    17. Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family The Journal of Dermatology · 2013 · 5 citations
    18. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    19. Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia Bioinformation · 2021 · 2 citations
    20. Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach Research Square (Research Square) · 2022 · 1 citations
    21. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    22. <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
    23. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    24. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    25. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    26. The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women Journal for Research in Applied Sciences and Biotechnology · 2022
    27. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    28. 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
    29. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    30. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015