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    Research 451–480 of 1000+

    1. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    2. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    3. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    4. 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
    5. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice Biochemical and Biophysical Research Communications · 2024
    6. Case Report: 7 Year-Old Saudi Female with Monilethrix Journal of Pakistan Association of Dermatologists · 2022
    7. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    8. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    9. Insertional mutation of the hairless locus on mouse Chromosome 14 Mammalian Genome · 1993 · 19 citations
    10. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    11. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    12. Diagnostic imaging in congenital adrenal hyperplasia – how does it help? Clinical endocrinology and metabolism journal · 2020 · 3 citations
    13. Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab Journal of Dermatological Treatment · 2025 · 1 citations
    14. Unusual symptoms of iron deficiency anemia (2 clinical observations) Pediatrician (St Petersburg) · 2023 · 1 citations
    15. Persistent hyperparathyroidism in vitamin D-dependent rickets type 2A does not prevent normalization of hypophosphatemia or healing of the rickets Hormone Research in Paediatrics · 2025
    16. A missense mutation in Lama3 causes androgen alopecia Scientific Reports · 2023
    17. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    18. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    19. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    20. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    21. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    22. APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up Journal of Human Immunity · 2025
    23. Collodion baby to bathing suit ichthyosis: A 6-year follow-up Indian dermatology online journal · 2022
    24. Differentiation of frontal fibrosing alopecia and Lichen planopilaris on trichoscopy: A comprehensive review Journal of Cosmetic Dermatology · 2021 · 3 citations
    25. Tinea capitis in Older Adults: A Neglected and Misdiagnosed Scalp Infection—A Systematic Review of Reported Cases Antibiotics · 2025
    26. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    27. Genetic Basis of Male Pattern Baldness Journal of Investigative Dermatology · 2003 · 191 citations
    28. Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes Journal of Investigative Dermatology · 1998 · 169 citations
    29. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    30. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations