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    Research 31–60 of 1000+

    1. Evolution of Trichocyte Keratins Advances in experimental medicine and biology · 2018 · 18 citations
    2. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    3. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    4. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    5. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    6. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    7. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    8. Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners. American Journal of Medical Genetics Part A · 1999
    9. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    10. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    11. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    12. Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma The Journal of Pathology · 2007 · 50 citations
    13. Androgen receptor activation integrates complex transcriptional effects in osteoblasts, involving the growth factors TGF-β and IGF-I, and transcription factor C/EBPδ Gene · 2015 · 11 citations
    14. Variation in the ovine trichohyalin gene and its association with wool curvature Small Ruminant Research · 2017 · 8 citations
    15. Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits International journal of molecular sciences · 2024
    16. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    17. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    18. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    19. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    20. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    21. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    22. Few Simple Sequence Repeats in Human Hair Journal of Chemical Biological and Physical Sciences · 2017
    23. Structure of human type II 5 alpha-reductase gene. Endocrinology · 1992 · 124 citations
    24. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    25. 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
    26. Keratin 71 Mutations: From Water Dogs to Woolly Hair 2012 · 11 citations
    27. Increased androgen receptor messenger RNA in frontal-parietal hair follicles of women with androgenetic alopecia Genetics and Molecular Research · 2013 · 6 citations
    28. Genome-based analysis of the genetic pattern of black sheep in Qira sheep BMC Genomics · 2025 · 4 citations
    29. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    30. Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families ˜The œjournal of gene medicine · 2020 · 3 citations