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    Research 31–60 of 1000+

    1. British Society for Dermatopathology: Summaries of Papers British Journal of Dermatology · 2003
    2. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    3. Spinal and bulbar muscular atrophy: pathogenesis and clinical management Oral Diseases · 2013 · 42 citations
    4. 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
    5. An interview Drs. Felix Brockschmidt and Markus Nöthen about the genetics of androgenetic alopecia Hair transplant forum international · 2009
    6. <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case Вопросы современной педиатрии · 2023
    7. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    8. Testing Chemotherapeutic Agents in the Feather Follicle Identifies a Selective Blockade of Cell Proliferation and a Key Role for Sonic Hedgehog Signaling in Chemotherapy-Induced Tissue Damage Journal of Investigative Dermatology · 2014 · 30 citations
    9. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
    10. Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene <i>ID2</i>, by contact sensitizers in human bulge‐derived keratinocytes Journal of Biochemical and Molecular Toxicology · 2010 · 6 citations
    11. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    12. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    13. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    14. The microfollicle: a model of the human hair follicle for in vitro studies In Vitro Cellular & Developmental Biology - Animal · 2020 · 16 citations
    15. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    16. Painful thickened skin on the soles of the feet JAAD case reports · 2022
    17. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    18. Vestibular Hair Cell Regeneration and Restoration of Balance Function Induced by Math1 Gene Transfer Otology & Neurotology · 2007 · 129 citations
    19. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    20. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    21. The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach British Journal of Dermatology · 2002 · 15 citations
    22. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    23. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    24. Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1 Case Reports · 2019 · 3 citations
    25. Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    26. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    27. A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease Movement disorders clinical practice · 2022 · 1 citations
    28. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    29. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    30. Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype JCEM Case Reports · 2025