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    1. Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits Animals · 2024 · 1 citations
    2. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    3. 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
    4. The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep Agritrop (Cirad) · 2002
    5. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    6. 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
    7. Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats The Indian Journal of Animal Sciences · 2017
    8. Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review Dermatology · 2013 · 3 citations
    9. Real-world safety of Tepotinib: Insights from the Food and Drug Administration Adverse Event Reporting System PLoS ONE · 2025 · 1 citations
    10. A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia 2014
    11. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    12. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    13. A mouse with bad hair and poor taste Appetite · 2013
    14. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    15. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    16. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    17. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    18. Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes Biochemical and Biophysical Research Communications · 2000 · 12 citations
    19. A Case Report of Werner’s Syndrome With a Novel Mutation From India Cureus · 2020 · 4 citations
    20. Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits International journal of molecular sciences · 2024
    21. Prostaglandin D2 Inhibits Wound-Induced Hair Follicle Neogenesis through the Receptor, Gpr44 Journal of Investigative Dermatology · 2012 · 68 citations
    22. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    23. Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients مجلة مركز بحوث التقنيات الاحيائية · 2014 · 2 citations
    24. Variation in the ovine trichohyalin gene and its association with wool curvature Small Ruminant Research · 2017 · 8 citations
    25. 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
    26. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    27. 5 alpha-reductase-2 gene mutations in the Dominican Republic. The Journal of Clinical Endocrinology & Metabolism · 1996 · 53 citations
    28. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    29. Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. PubMed · 2002 · 9 citations
    30. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations