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    Research 541–570 of 1000+

    1. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    2. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    3. Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects Endocrinology, diabetes & metabolism case reports · 2016 · 12 citations
    4. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    5. Bicalutamide: A review Journal of Cutaneous and Aesthetic Surgery · 2024
    6. Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report Pediatric rheumatology online journal · 2021 · 3 citations
    7. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    8. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    9. Inflammatory auxo-action in the stem cell division theory of cancer PeerJ · 2023 · 2 citations
    10. The First Visit: Consult and Workup Before Sperm Banking Springer eBooks · 2017
    11. Spatial transcriptomics of a giant pilomatricoma Journal of cutaneous pathology · 2023 · 1 citations
    12. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    13. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    14. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    15. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    16. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    17. YAP/TAZ Signalling Controls Epidermal Keratinocyte Fate International Journal of Molecular Sciences · 2024 · 14 citations
    18. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
    19. Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype Developmental Dynamics · 2000 · 75 citations
    20. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    21. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003 · 42 citations
    22. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    23. Abstract 14 Indian Journal of Endocrinology and Metabolism · 2014 · 9 citations
    24. A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms International journal of molecular sciences · 2023 · 3 citations
    25. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    26. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    27. Dermoscopy: A rapid bedside tool to assess monilethrix Indian journal of dermatology, venereology, and leprology · 2015 · 11 citations
    28. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    29. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    30. Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network Clinical Cosmetic and Investigational Dermatology · 2022