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    Research 601–630 of 1000+

    1. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    2. Varying Presentation of Type 1 Polyglandular Failure in India 2010 · 4 citations
    3. Uncombable hair syndrome and beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022
    4. 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
    5. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    6. Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review Pediatric Dermatology · 2025
    7. Comparison of pemetrexed and docetaxel as salvage chemotherapy for the treatment for nonsmall-cell lung cancer after the failure of epidermal growth factor receptor-tyrosine kinase inhibitors Journal of international medical research · 2014 · 12 citations
    8. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    9. Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis Translational pediatrics · 2021 · 1 citations
    10. APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up Journal of Human Immunity · 2025
    11. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    12. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    13. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    14. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    15. Erythromelanosis follicularis faciei in women Journal of the American Academy of Dermatology · 1995 · 25 citations
    16. Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia 2003 · 1 citations
    17. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    18. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    19. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    20. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    21. An epistatic effect of KRT25 on SP6 is involved in curly coat in horses Scientific Reports · 2018 · 13 citations
    22. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    23. Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen Hirosaki University Repository for Academic Resources (Hirosaki University) · 2009 · 3 citations
    24. Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype BMC genomics · 2024
    25. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    26. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients Breast cancer research · 2013 · 32 citations
    27. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    28. Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous Diagnostics · 2022 · 5 citations
    29. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    30. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations