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    Research 181–210 of 251

    1. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    2. <i>NUDT15</i>,<i>FTO</i>, and<i>RUNX1</i>genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases Intestinal Research · 2017 · 40 citations
    3. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    4. The quantification of reproductive hormones in the hair of captive adult brown bears and their application as indicators of sex and reproductive state Conservation physiology · 2017 · 33 citations
    5. Two-ligand priming mechanism for potentiated phosphoinositide synthesis is an evolutionarily conserved feature of Sec14-like phosphatidylinositol and phosphatidylcholine exchange proteins Molecular biology of the cell · 2016 · 25 citations
    6. Effect of warning symbols in combination with education on the frequency of erroneously crushing medication in nursing homes: an uncontrolled before and after study BMJ Open · 2016 · 20 citations
    7. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    8. Clinical, pathological, and molecular features of classical and L-type atypical-BSE in goats PloS one · 2018 · 5 citations
    9. Change in the Usage of Complementary and Alternative Medicine in the Era of Biologics Among Korean Patients With Psoriasis Journal of Korean Medical Science · 2023 · 3 citations
    10. Evaluation of hair loss Current problems in dermatology · 1996 · 21 citations
    11. Selection criteria and techniques for improved cosmesis and predictable outcomes in laser hair removal treatment of acne keloidalis nuchae JAAD case reports · 2019 · 9 citations
    12. Reframing the Discussion on Finasteride and Neuropsychiatric Safety The Journal of Clinical Psychiatry · 2025
    13. Inflammatory Skin Disease in Latin America: Treatment Challenges and Opportunities Journal of Inflammation Research · 2025
    14. Expression of Hypothalamic–Pituitary–Thyroid Axis RelatedGenes in the Human Skin Journal of Investigative Dermatology · 2002 · 155 citations
    15. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    16. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    17. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    18. Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000 · 77 citations
    19. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    20. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    21. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003 · 42 citations
    22. Human Follicular Papilla Cells Carry Out Nonadipose Tissue Production of Leptin Journal of Investigative Dermatology · 2001 · 37 citations
    23. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    24. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    25. Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss EBioMedicine · 2020 · 19 citations
    26. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    27. Concomitant occurrence of acneiform eruption, alopecia areata, and urticaria during adalimumab treatment in a patient with pustulosis palmoplantaris: Case report and literature review Dermatologica Sinica · 2011 · 10 citations
    28. Imbalanced redox dynamics induce fibroblast senescence leading to impaired stem cell pools and skin aging Free Radical Biology and Medicine · 2025 · 7 citations
    29. Transcription factor-based transdifferentiation of human embryonic to trophoblast stem cells Development · 2024 · 4 citations
    30. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations