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    Research 181–210 of 1000+

    1. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    2. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    3. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    4. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    5. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    6. 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
    7. Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    8. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    9. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    10. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    11. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    12. Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings International journal of contemporary pediatrics · 2020
    13. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    14. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    15. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    16. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    17. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    18. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    19. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    20. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    21. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    22. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    23. Monilethrix in three generations Indian Journal of Dermatology · 2008 · 6 citations
    24. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    25. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    26. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    27. Type II Vitamin D Dependent Rickets: A Case Report Journal of Nepal Paediatric Society · 1970 · 5 citations
    28. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    29. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    30. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations