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    Research 241–270 of 1000+

    1. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    2. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    3. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    4. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    5. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    6. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    7. Mammalian-specific ectodermal enhancers control the expression of <i>Hoxc</i> genes in developing nails and hair follicles Proceedings of the National Academy of Sciences · 2020 · 25 citations
    8. Hair loss in children. Archives of Disease in Childhood · 1993 · 6 citations
    9. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    10. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    11. SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT Advances in neonatal care · 2003 · 46 citations
    12. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    13. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    14. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability European Journal of Human Genetics · 2015 · 19 citations
    15. Defining the identity of mouse embryonic dermal fibroblasts Genesis · 2016 · 21 citations
    16. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    17. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations
    18. Secondary cicatricial and other permanent alopecias Dermatologic Therapy · 2008 · 20 citations
    19. DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE International Journal of Dermatology · 1995 · 18 citations
    20. The Spectrum of Skin Disease Among Indian Children Pediatric Dermatology · 2009 · 65 citations
    21. Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity Pediatric Dermatology · 1986 · 5 citations
    22. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    23. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    24. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    25. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations
    26. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    27. Congenital atrichia associated with situs inversus and mesocardia International journal of trichology · 2012 · 5 citations
    28. A Review of the Use of Biotin for Hair Loss Skin appendage disorders · 2017 · 78 citations
    29. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    30. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations