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    Research 61–90 of 1000+

    1. Avaliação do impacto da redução significativa de peso pela dieta cetogênica de muito baixa caloria nos parâmetros metabólicos, inflamatórios, hormonais e seminais de homens obesos 2023
    2. Farmácia Militar do Laboratório Nacional do Medicamento, Porto e Serviços Farmacêuticos do Centro Hospitalar Universitário do Porto (Hospital de Santo António), EPE, Porto Open Repository of the University of Porto (University of Porto) · 2023
    3. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    4. Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type Journal of the American Academy of Dermatology · 2012 · 2 citations
    5. Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering PLoS Biology · 2011 · 103 citations
    6. 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
    7. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    8. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    9. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    10. Signaling Involved in Hair Follicle Morphogenesis and Development International Journal of Molecular Sciences · 2014 · 223 citations
    11. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    12. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    13. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    14. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    15. Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine 2020 · 3 citations
    16. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2025
    17. Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes Diabetes · 2011 · 53 citations
    18. Hox in the Niche Controls Hairy-geneity Cell Stem Cell · 2018 · 4 citations
    19. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006 · 74 citations
    20. Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination Frontiers in Genetics · 2025 · 2 citations
    21. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    22. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    23. 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
    24. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    25. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    26. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation Journal of dermatological science · 2017 · 5 citations
    27. Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017 · 1 citations
    28. Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017
    29. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    30. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations