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    Research 721–750 of 1000+

    1. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    2. 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
    3. Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth Pediatric neurology · 2017 · 10 citations
    4. Proliferative, lymphocytic, infundibular mural folliculitis and dermatitis with prominent follicular apoptosis and parakeratotic casts in four Labrador retrievers: preliminary description and response to therapy Veterinary dermatology · 2013 · 10 citations
    5. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    6. PLCD1 and Pilar Cysts 2019 · 5 citations
    7. Association between Mesenchymal Stem Cells and COVID-19 Therapy: Systematic Review and Current Trends BioMed Research International · 2022 · 4 citations
    8. Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families ˜The œjournal of gene medicine · 2020 · 3 citations
    9. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    10. A retrospective review of hyperaesthetic leucotrichia in horses in the USA Veterinary dermatology · 2016 · 2 citations
    11. Real-world safety of Tepotinib: Insights from the Food and Drug Administration Adverse Event Reporting System PLoS ONE · 2025 · 1 citations
    12. eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    13. Ayurvedic Medicinal Plants and Plant-Derived Extracellular Vesicles: Current Evidence and Future Perspectives Nanomaterials · 2026
    14. Acquired Trichorrhexis Nodosa Caused by Massage of the Scalp After Topical Minoxidil: A Case Report and Review of the Literature Journal of Cosmetic Dermatology · 2025
    15. Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region Dermatology Practical & Conceptual · 2025
    16. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    17. O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes 2024
    18. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    19. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    20. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    21. Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx OPAL (Open@LaTrobe) (La Trobe University) · 2021
    22. Utilizing functional genomics approaches to characterize risk genes in alopecia areata Columbia Academic Commons (Columbia University) · 2020
    23. Deciphering the pathogenesis of central centrifugal cicatricial alopecia 2019
    24. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    25. 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2019
    26. News in brief Expert Review of Dermatology · 2011
    27. 5. 周産期チーム医療におけるソーシャルワークの役割 : 子どもと家族のしあわせへの貢献をチームで目指す中で(メインシンポジウム これからの周産期チーム医療の展開,第50回日本母性衛生学会総会) 母性衛生 · 2009
    28. Histopathologycal and topical immunologycal changes in alopeciae Journal of the European Academy of Dermatology and Venereology · 1998
    29. Advances in Stem Cell-Based Therapy for Hair Loss. PubMed · 2020 · 7 citations
    30. Cosmetic dermatologic surgery 1998 · 7 citations