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    Research 241–270 of 1000+

    1. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    2. New familial association between ocular coloboma and loose anagen syndrome Clinical Genetics · 1995 · 19 citations
    3. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    4. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    5. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    6. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    7. 4 Vitamin D resistance Baillière's clinical endocrinology and metabolism · 1994 · 13 citations
    8. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    9. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    10. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    11. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    12. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    13. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    14. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    15. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    16. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    17. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    18. Congenital atrichia with papular lesions Dermatology Online Journal · 2020 · 4 citations
    19. Monilethrix International Journal of Trichology · 2013 · 4 citations
    20. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    21. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    22. Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits. Journal of Toxicologic Pathology · 2000 · 2 citations
    23. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    24. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    25. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    26. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    27. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    28. Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    29. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    30. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015