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    Research 31–60 of 1000+

    1. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    2. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    3. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    4. Prediction of male-pattern baldness from genotypes European Journal of Human Genetics · 2015 · 37 citations
    5. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    6. Characterization of Novel Cutaneous Human Papillomavirus Genotypes HPV-150 and HPV-151 PLoS ONE · 2011 · 20 citations
    7. <i>IGF2BP2</i> and <i>IGFBP3</i> Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome Journal of Clinical Laboratory Analysis · 2024 · 6 citations
    8. Pitfalls of PCR-Based Strategy for Genotyping <i>Cre-Loxp</i> Mice BioTechniques · 2007 · 6 citations
    9. Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome European Journal of Endocrinology · 2012 · 16 citations
    10. Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems Balkan Journal of Medical Genetics · 2015 · 1 citations
    11. Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A 2019
    12. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    13. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    14. Optimizing the production of true shallot seed by inducing flowering in various shallot genotypes Jurnal Agronomi Indonesia (Indonesian Journal of Agronomy) · 2024
    15. Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype JCEM Case Reports · 2025
    16. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    17. Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum Pediatric Dermatology · 2026
    18. Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype Developmental Dynamics · 1999 · 52 citations
    19. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    20. Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models Forensic Sciences Research · 2024 · 4 citations
    21. Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models Research Square (Research Square) · 2023 · 2 citations
    22. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    23. Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype Curēus · 2023 · 1 citations
    24. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    25. Physiochemical Properties, Lipid Breakdown, β-Carotenoids, Tocopherols, Vitamins, Amino and Fatty Acid Profiles of Soxhlet Extracted Oil from Different Garden Cress Seed (<i>Lepidium sativum</i> L.) Genotypes in Ethiopia Journal of Oleo Science · 2022 · 2 citations
    26. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    27. Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia International Journal of Dermatology · 2009 · 23 citations
    28. Effect of the Polymorphisms of Keratin Associated Protein 8.2 Gene on Fibre Traits in Inner Mongolia Cashmere Goats Asian-Australasian Journal of Animal Sciences · 2007 · 20 citations
    29. Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population Gene · 2013 · 15 citations
    30. Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata Journal of Clinical Laboratory Analysis · 2018 · 12 citations