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    Research 691–720 of 799

    1. No Evidence That Human Papillomavirus Is Responsible for the Aggressive Nature of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Journal of Investigative Dermatology · 2010 · 14 citations
    2. Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001 · 14 citations
    3. MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2 Journal of the Endocrine Society · 2025
    4. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    5. 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin Journal of Investigative Dermatology · 2023
    6. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 2020
    7. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    8. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    9. p63: a crucial player in epithelial stemness regulation Oncogene · 2023 · 54 citations
    10. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    11. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    12. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    13. Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis PLoS ONE · 2013 · 18 citations
    14. Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population Gene · 2013 · 15 citations
    15. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    16. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    17. Frontal fibrosing alopecia: a review of eleven patients European Journal of Dermatology · 2011 · 8 citations
    18. CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico Anais Brasileiros de Dermatologia · 2020 · 6 citations
    19. Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene Journal of Dermatological Science · 1994 · 6 citations
    20. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation Journal of dermatological science · 2017 · 5 citations
    21. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    22. Importance of Citrullination on Hair Protein Molecular Assembly During Trichocytic Differentiation 2013 · 5 citations
    23. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands Acta dermato-venereologica · 2017 · 4 citations
    24. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    25. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    26. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    27. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    28. Steatocystoma Multiplex Indian Dermatology Online Journal · 2023 · 1 citations
    29. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    30. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations