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    Research 91–120 of 437

    1. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    2. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    3. Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations International Journal of Molecular Sciences · 2022 · 6 citations
    4. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    5. A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits BMC genomics · 2023 · 5 citations
    6. Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus 2019 · 3 citations
    7. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations
    8. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    9. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    10. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    11. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    12. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    13. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    14. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    15. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    16. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    17. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    18. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    19. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006 · 74 citations
    20. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    21. Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering PLoS Biology · 2011 · 103 citations
    22. 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
    23. 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
    24. 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
    25. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    26. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    27. 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
    28. Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish International Journal of Molecular Sciences · 2025 · 1 citations
    29. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    30. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations