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    Research 31–60 of 1000+

    1. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    2. A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia 2014
    3. Comparative Skin Transcriptomics Reveals Key Regulators of Cashmere Fiber Production in Inner Mongolian Goats Animals · 2026
    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. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    6. A mouse with bad hair and poor taste Appetite · 2013
    7. Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia Vestnik dermatologii i venerologii · 2010
    8. The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep Agritrop (Cirad) · 2002
    9. Informàtica i Dret penal: Els delictes relatius a la informàtica Studia iuridica · 1996
    10. Real-world safety of Tepotinib: Insights from the Food and Drug Administration Adverse Event Reporting System PLoS ONE · 2025 · 1 citations
    11. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    12. Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes Biochemical and Biophysical Research Communications · 2000 · 12 citations
    13. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    14. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    15. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    16. A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome Diabetes Metabolic Syndrome and Obesity · 2024 · 1 citations
    17. 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
    18. Few Simple Sequence Repeats in Human Hair Journal of Chemical Biological and Physical Sciences · 2017
    19. 851 The role of astrotactin2 in regulating mammalian skin polarity 2017
    20. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    21. Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes 1998 · 74 citations
    22. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    23. Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma The Journal of Pathology · 2007 · 50 citations
    24. 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
    25. Evolution of Trichocyte Keratins Advances in experimental medicine and biology · 2018 · 18 citations
    26. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    27. 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
    28. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    29. Variation in the ovine trichohyalin gene and its association with wool curvature Small Ruminant Research · 2017 · 8 citations
    30. 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