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    Research 31–60 of 347

    1. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population Neurological Sciences · 2015 · 21 citations
    2. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    3. Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family Andrology · 2025
    4. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    5. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    6. 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
    7. Beyond Appearances: The Hidden Coat Diversity of the Sicilian Mastiff Revealed by Integrated Phenotypic and Genetic Analyses Veterinary Sciences · 2026
    8. The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle Animal Genetics · 2007 · 51 citations
    9. Female Androgenetic Alopecia: A Separate Entity Dermatologic Surgery · 2000 · 50 citations
    10. Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles Journal of Genetic Counseling · 2020 · 17 citations
    11. Seborrhoeic Dermatitis in Pigmy Goats Veterinary dermatology · 1991 · 5 citations
    12. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    13. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    14. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    15. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    16. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    17. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family Journal of Cutaneous Pathology · 2010 · 7 citations
    18. Chapter 23. Therapeutic Control of Androgen Action Annual Reports in Medicinal Chemistry · 1994 · 7 citations
    19. Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i> The Journal of Dermatology · 2017 · 5 citations
    20. Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity Pediatric Dermatology · 1986 · 5 citations
    21. Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation Dermatologica Sinica · 2010 · 3 citations
    22. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    23. Neurological presentation of psittacosis during a small outbreak in Leicestershire. The BMJ · 1976 · 25 citations
    24. The human keratins: biology and pathology Histochemistry and Cell Biology · 2008 · 1398 citations
    25. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    26. THE PATHOGENESIS OF ALOPECIA AREATA Dermatologic Clinics · 1996 · 89 citations
    27. Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease Movement Disorders · 2011 · 47 citations
    28. A preliminary study of finasteride in Tourette syndrome Movement Disorders · 2011 · 46 citations
    29. SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT Advances in neonatal care · 2003 · 46 citations
    30. Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up Movement Disorders · 2011 · 39 citations