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    Research 361–390 of 1000+

    1. 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
    2. 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
    3. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    4. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    5. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    6. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    7. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    8. Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations British Journal of Dermatology · 2015 · 7 citations
    9. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    10. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    11. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    12. Monilethrix International Journal of Trichology · 2013 · 4 citations
    13. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    14. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    15. Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits. Journal of Toxicologic Pathology · 2000 · 2 citations
    16. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    17. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    18. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    19. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    20. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    21. Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    22. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    23. Tricotiodistrofia. Reporte de un caso Revista del Centro Dermatológico Pascua · 2007
    24. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000
    25. Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report Journal of Chittagong Medical College Teachers Association · 2026
    26. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    27. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    28. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice bioRxiv (Cold Spring Harbor Laboratory) · 2024
    29. Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother SAGE Open Medical Case Reports · 2024
    30. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023