Search
for

    Sort by

    Research 91–120 of 1000+

    1. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    2. Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study Journal of clinical medicine · 2024
    3. Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism Journal of Biomedical Science · 2023
    4. The Prevalence of Polycystic Ovary Syndrome, Its Phenotypes and Cardio-Metabolic Features in a Community Sample of Iranian Population: Tehran Lipid and Glucose Study Frontiers in Endocrinology · 2022 · 9 citations
    5. The Spectrum of Scarring in Craniofacial Wound Repair Frontiers in Physiology · 2019 · 48 citations
    6. What may be the markers of the male equivalent of polycystic ovary syndrome? Physiological Research · 2004 · 39 citations
    7. Development and pilot-testing of the Alopecia Areata Assessment Tool (ALTO) PLOS ONE · 2018 · 6 citations
    8. A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women Clinical Cosmetic and Investigational Dermatology · 2022 · 5 citations
    9. The spectrum of fibrosing alopecias JEADV Clinical Practice · 2022
    10. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    11. 3D spheroid culture synchronizes heterogeneous MSCs into an immunomodulatory phenotype with enhanced anti-inflammatory effects iScience · 2024 · 13 citations
    12. Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study International Journal of Environmental Research and Public Health · 2021 · 4 citations
    13. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    14. Identification of spectrum of persistent post-COVID-19 symptoms and their duration in Central India: A pilot study Journal of Family Medicine and Primary Care · 2022 · 1 citations
    15. Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications Journal of Genome Biotechnology and Genetics · 2026
    16. Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss Cureus · 2025
    17. Bacteria induce skin regeneration via IL-1β signaling Cell Host & Microbe · 2021 · 53 citations
    18. Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis Journal of The American Academy of Dermatology · 2014 · 3 citations
    19. Unveiling Post-COVID-19 syndrome: incidence, biomarkers, and clinical phenotypes in a Thai population BMC Infectious Diseases · 2024 · 1 citations
    20. The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes Journal of Biological Chemistry · 2008 · 35 citations
    21. Total testosterone to dihydrotestosterone ratio assessed by LC-MS/MS predicts a worse metabolic profile not only in PCOS patients Ginekologia Polska · 2017 · 9 citations
    22. Simultaneous Determination of Selected Steroids with Neuroactive Effects in Human Serum by Ultrahigh-Performance Liquid Chromatography–Tandem Mass Spectrometry ACS Chemical Neuroscience · 2024 · 5 citations
    23. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    24. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    25. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    26. Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma Experimental Dermatology · 2016 · 8 citations
    27. Predicting Human Appearance from DNA for Forensic Investigations Security science and technology · 2016 · 5 citations
    28. Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models Forensic Sciences Research · 2024 · 4 citations
    29. Sex Hormones and Hair Loss in Men From the General Population of Northeastern Germany. JAMA Dermatology · 2017 · 6 citations
    30. The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data BMC Medicine · 2025 · 1 citations