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    Research 811–840 of 1000+

    1. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    2. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    3. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    4. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    5. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    6. 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
    7. Establishment of Tsc2-deficient rat embryonic stem cells International Journal of Oncology · 2015 · 8 citations
    8. Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis Proceedings - Baylor University. Medical Center · 2018 · 6 citations
    9. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 4 citations
    10. Exuberant tufted folliculitis 2019 · 2 citations
    11. The Association Between Autism Spectrum Disorders and Dietary Intake of Carbohydrates in School‐Aged Children in Iran: A Case–Control Study Neuropsychopharmacology Reports · 2025 · 1 citations
    12. Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature Indian Dermatology Online Journal · 2023 · 1 citations
    13. Cutaneous Signs of Malnutrition Secondary to Eating Disorders Cutis · 2023 · 1 citations
    14. Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? Diagnostics · 2022 · 1 citations
    15. Splitting Hairs: The Creation and Dissolution of Boundaries in Thirteenth-Century French Literature Open Scholarship Institutional Repository (Washington University in St. Louis) · 2018 · 1 citations
    16. Hair-Raising Feminist studies · 1988 · 1 citations
    17. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    18. Hair follicles as immune targets: unraveling cellular players, cytokine crosstalk, and precision pathways for future therapy of alopecia areata Expert Review of Clinical Immunology · 2026
    19. Immunohistochemical Expression of Sox9 and CD34 in Androgenetic Alopecia Patients Applied immunohistochemistry & molecular morphology · 2026
    20. Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report Clinical Case Reports · 2026
    21. IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES Zenodo (CERN European Organization for Nuclear Research) · 2026
    22. IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES Zenodo (CERN European Organization for Nuclear Research) · 2026
    23. Dermatologist prescribing patterns for androgenetic alopecia therapies among Medicare beneficiaries Archives of Dermatological Research · 2025
    24. Rare Case of Cutis Vertex Gyrata Journal of Medical Science And clinical Research · 2025
    25. Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss Cureus · 2025
    26. Clinical characteristics and risk factors of female precocious puberty Medicine · 2025
    27. P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study Genetics in Medicine Open · 2025
    28. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · 2024
    29. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    30. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023