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    Research 451–480 of 1000+

    1. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families Frontiers in Medicine · 2024 · 3 citations
    2. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia BMC Medical Genomics · 2024 · 3 citations
    3. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024
    4. Whn and mHa3 are components of the genetic hierarchy controlling hair follicle differentiation Mechanisms of Development · 1999 · 79 citations
    5. Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib Acta Dermato Venereologica · 2020 · 4 citations
    6. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    7. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    8. HSP90 Inhibition and Cellular Stress Elicits Phenotypic Plasticity in Hematopoietic Differentiation Cellular Reprogramming · 2017 · 5 citations
    9. A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer PLOS Genetics · 2020 · 43 citations
    10. Utilising SNP Association Analysis as a Prospective Approach for Personalising Androgenetic Alopecia Treatment Dermatology and therapy (Internet) · 2024
    11. Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex Genome Biology · 2019 · 48 citations
    12. Chronic overlapping pain conditions and nociplastic pain Human Genetics and Genomics Advances · 2024 · 16 citations
    13. Causal Effects of Lipids-Related Metabolites on Androgenic Alopecia: A Mendelian Randomization Study Clinical, Cosmetic and Investigational Dermatology · 2024
    14. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    15. Genetics and Epigenetics of Polycystic Ovary Syndrome IntechOpen eBooks · 2023
    16. An epistatic effect of KRT25 on SP6 is involved in curly coat in horses Scientific Reports · 2018 · 13 citations
    17. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    18. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    19. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    20. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    21. Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study Human genomics · 2024
    22. A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits Genetics selection evolution · 2021 · 11 citations
    23. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>) Veterinary pathology · 2010 · 10 citations
    24. Identification of lncRNAs involved in the hair follicle cycle transition of cashmere goats in response to photoperiod change BMC Genomics · 2025 · 1 citations
    25. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    26. Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management Russian Journal of Child Neurology · 2024
    27. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    28. Association of early-onset androgenetic alopecia with metabolic syndrome: A case–control study on 46 patients in a tertiary care hospital in South India Indian Journal of Paediatric Dermatology · 2018
    29. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    30. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003 · 42 citations