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    Research 481–510 of 1000+

    1. The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience Frontiers in Pediatrics · 2022 · 35 citations
    2. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    3. Identification of the Key Genes Associated with Different Hair Types in the Inner Mongolia Cashmere Goat Animals · 2022 · 30 citations
    4. Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene Journal of Veterinary Internal Medicine · 2009 · 30 citations
    5. Strategies for High-Efficiency Mutation Using the CRISPR/Cas System Frontiers in Cell and Developmental Biology · 2022 · 29 citations
    6. Damage of hair follicle stem cells and alteration of keratin expression in external radiation-induced acute alopecia International Journal of Molecular Medicine · 2012 · 28 citations
    7. Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases Molecular Neurodegeneration · 2024 · 26 citations
    8. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    9. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    10. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    11. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    12. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    13. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    14. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    15. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    16. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    17. Transcriptional profiling of putative human epithelial stem cells BMC Genomics · 2008 · 16 citations
    18. Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes Hormones · 2017 · 15 citations
    19. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations
    20. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle 2015 · 15 citations
    21. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    22. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    23. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    24. Comprehensive analysis of the expression profiles of mRNA, lncRNA, circRNA, and miRNA in primary hair follicles of coarse sheep fetal skin BMC Genomics · 2024 · 13 citations
    25. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    26. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    27. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    28. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    29. Deficiency in Nucleotide Excision Repair Family Gene Activity, Especially ERCC3, Is Associated with Non-Pigmented Hair Fiber Growth PloS one · 2012 · 10 citations
    30. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations