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    Research 901–930 of 1000+

    1. Polycystic Ovary Syndrome: Conditions, Genetics and Current Cure Endocrinology&Metabolism International Journal · 2016
    2. Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix International Journal of Dermatology · 2015 · 8 citations
    3. Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism American Journal of Case Reports · 2020 · 3 citations
    4. Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets JDR Clinical & Translational Research · 2017 · 12 citations
    5. Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1 Molecular and Cellular Biology · 2004 · 48 citations
    6. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    7. 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
    8. The role of mutations on gene AR, in androgenetic alopecia syndrome International journal of molecular biology · 2020
    9. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations
    10. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    11. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    12. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    13. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations
    14. Novel missense mutation in the EDA gene in a family affected by oligodontia 2016 · 12 citations
    15. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    16. Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients مجلة مركز بحوث التقنيات الاحيائية · 2014 · 2 citations
    17. The Shaven (Sha) Mutation, Chromosome 15 2020 · 1 citations
    18. Androgenetic Alopecia in Men: An Update On Genetics Indian Journal of Dermatology · 2024
    19. Molecular Genetics of Human Hair Diseases 2008
    20. Cicatricial (Scarring) Alopecias American Journal of Clinical Dermatology · 2012 · 44 citations
    21. A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions Experimental Dermatology · 2000 · 47 citations
    22. Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis Anais Brasileiros de Dermatologia · 2019
    23. Stem cells and aberrant signaling of molecular systems in skin aging Ageing Research Reviews · 2014 · 25 citations
    24. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    25. Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development Proceedings of the National Academy of Sciences of the United States of America · 2003 · 93 citations
    26. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    27. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    28. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    29. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    30. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations