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    Research 121–150 of 1000+

    1. Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics · 2004 · 80 citations
    2. Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease Annals of Internal Medicine · 1971 · 32 citations
    3. オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入 1991
    4. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    5. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    6. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    7. LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR Dermatologic Clinics · 1996 · 25 citations
    8. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    9. Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth Journal of the European Academy of Dermatology and Venereology · 2019 · 10 citations
    10. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    11. Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis Journal of Investigative Dermatology · 2013 · 32 citations
    12. Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child Dermatology Practical & Conceptual · 2025
    13. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    14. Analysis of the abnormal human hair keratins by two-dimensional polyacrylamide gel electrophoresis Journal of Dermatological Science · 1990
    15. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    16. SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT Advances in neonatal care · 2003 · 46 citations
    17. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    18. Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature 2020 · 15 citations
    19. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    20. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    21. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    22. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    23. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    24. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    25. Application of Platelet-Rich Gel in Repairing Scalp Defects Combined with Skull Exposure: A Case Series Analysis Indian journal of surgery · 2023
    26. Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children Archives of Dermatology · 1992 · 55 citations
    27. Case 21-2012 The New England Journal of Medicine · 2012 · 16 citations
    28. Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome Archives of Dermatology · 2009 · 46 citations
    29. Zinc, Copper, and Iron in Selected Skin Diseases International journal of molecular sciences · 2024
    30. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations