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    Research 241–270 of 1000+

    1. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    2. Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age Forensic Science International Genetics · 2023 · 89 citations
    3. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    4. The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency. The Journal of Clinical Endocrinology & Metabolism · 1995 · 54 citations
    5. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    6. The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects Developmental Dynamics · 2006 · 49 citations
    7. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998 · 47 citations
    8. Insulin resistance and obesity among infertile women with different polycystic ovary syndrome phenotypes Scientific Reports · 2017 · 42 citations
    9. Modulation of the differentiated phenotype of keratinocytes of the hair follicle and from epidermis Journal of Dermatological Science · 1994 · 41 citations
    10. Metabolic aspects of different phenotypes of polycystic ovary syndrome: Iranian PCOS Prevalence Study Clinical Endocrinology · 2014 · 31 citations
    11. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    12. Observation of phenotypic variation among Indian women with polycystic ovary syndrome (PCOS) from Delhi and Srinagar Gynecological Endocrinology · 2016 · 16 citations
    13. Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A<i>LIPH</i>mutation 2016 · 12 citations
    14. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    15. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    16. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    17. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    18. Comparing classic and newer phenotypes in Greek PCOS women: the prevalence of metabolic syndrome and their association with insulin resistance. Journal of Endocrinological Investigation · 2012 · 8 citations
    19. Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models Forensic Sciences Research · 2024 · 4 citations
    20. 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
    21. Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis Journal of The American Academy of Dermatology · 2021 · 3 citations
    22. Genetics underlying phenotypic diversity in South African sheep breeds Small Ruminant Research · 2025 · 2 citations
    23. 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
    24. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
    25. Polycystic Ovary Syndrome Phenotypes and Infertility Treatment IntechOpen eBooks · 2022 · 1 citations
    26. Global Landscapes of Human Phenotypic Variation in Inherited Traits Evolutionary studies · 2017 · 1 citations
    27. Exploring imputation performance of phenotype-associated SNPs for forensic prediction models Scientific Reports · 2026
    28. MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants Journal of Investigative Dermatology · 2026
    29. Integrative skin phenotypic and transcriptomic analyses reveal candidate genes for coat color and fiber length in four Chinese goat breeds (<i>Capra hircus</i>) Animal Advances · 2026
    30. Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women Basic and Clinical Andrology · 2025