Search
for

    Sort by

    Research 30 of 1000+

    1. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    2. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    3. Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin Proceedings of the National Academy of Sciences · 2001 · 201 citations
    4. Follicular dysplasia in five Weimaraners Veterinary dermatology · 2002 · 18 citations
    5. Congenital Hypotrichosis with Hair and Dental Ectodermal Features Responsive to Sublingual Minoxidil Clinical and Experimental Dermatology · 2026
    6. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    7. Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy JAAD Case Reports · 2019 · 4 citations
    8. 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
    9. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    10. MICRO-MORPHOMETRIC STUDY OF SKIN IN DEVELOPING HUMAN FETUSES AND ITS CLINICAL RELEVANCE International journal of anatomy and research · 2017 · 1 citations
    11. Follicular dysplasia and hair loss in white-tailed deer (<i>Odocoileus virginianus</i>) Veterinary pathology · 2023
    12. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    13. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    14. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    15. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    16. Polarized microscopy in genetic hair disorders: case series 2025
    17. GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT CINECA IRIS Institutial Research Information System (University of Genoa) · 2019
    18. Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners. American Journal of Medical Genetics Part A · 1999
    19. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    20. Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review Indian Journal of Dermatology · 2016 · 13 citations
    21. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    22. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    23. Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico Revista Dermatológica Centro Uraga · 2022
    24. Index Harper's Textbook of Pediatric Dermatology · 2019
    25. Congenital and Hereditary Skin Diseases 2018
    26. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    27. Hair dysplasias 2015
    28. Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature Pediatric neurology · 2008 · 23 citations
    29. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    30. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026