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    Research 30 of 85

    1. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    2. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    3. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    4. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    5. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    6. 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis Journal of Investigative Dermatology · 2024
    7. LAMELLAR ICHTHYOSIS: ONE CASE REPORT International Journal of Medical Reviews and Case Reports · 2019 · 1 citations
    8. Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes Experimental Dermatology · 2019 · 44 citations
    9. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    10. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    11. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    12. The oestrogen receptor 2 (<i>ESR2</i>) gene in female-pattern hair loss: replication of association with rs10137185 in German patients British Journal of Dermatology · 2013 · 4 citations
    13. Microarray analysis of androgenetic and senescent alopecia: Comparison of gene expression shows two distinct profiles Journal of Dermatological Science · 2013 · 27 citations
    14. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    15. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    16. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    17. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    18. Helminth protein enhances wound healing by inhibiting fibrosis and promoting tissue regeneration Life Science Alliance · 2024
    19. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    20. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    21. Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis Genes · 2020 · 7 citations
    22. Dermatologia e Procedimentos Estéticos Ed. XVIII Editora Pasteur eBooks · 2025
    23. Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs Frontiers in Genetics · 2023
    24. The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs Genomics · 1998 · 79 citations
    25. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    26. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    27. Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin Journal of Biological Chemistry · 2011 · 35 citations
    28. Transcriptomic landscape of early hair follicle and epidermal development Cell Reports · 2023 · 23 citations
    29. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    30. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations