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    Glossary Genotyping

    determining genetic makeup by analyzing DNA sequences

    Genotyping is the process of determining the genetic makeup of an individual by examining their DNA sequence. This can reveal variations in genes that may be linked to specific traits or conditions, such as susceptibility to certain diseases or response to medications. It is also known as DNA typing and is commonly used in research, medicine, and forensics to identify genetic differences and similarities.

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    1. Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia Acta dermato-venereologica · 2023 · 1 citations
    2. Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer Iraqi Journal of Science · 2025
    3. Optimal processing for proteomic genotyping of single human hairs Forensic Science International Genetics · 2020 · 30 citations
    4. In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair International journal of legal medicine · 2011 · 27 citations
    5. Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery) Research Square (Research Square) · 2023
    6. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    7. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide Nature biotechnology · 2000 · 130 citations
    8. 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
    9. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    10. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    11. Pitfalls of PCR-Based Strategy for Genotyping <i>Cre-Loxp</i> Mice BioTechniques · 2007 · 6 citations
    12. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin Annales de Génétique · 2003 · 4 citations
    13. PERBANDINGAN ARMS-PCR DAN ALLELE-SPECIFIC PCR DALAM OPTIMASI GENOTIPING SNP rs1998076 Ebers Papyrus · 2026
    14. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    15. Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum Pediatric Dermatology · 2026
    16. Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models Forensic Sciences Research · 2024 · 4 citations
    17. Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models Research Square (Research Square) · 2023 · 2 citations
    18. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    19. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    20. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    21. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    22. The long and the short of it: evidence that <i>FGF5</i> is a major determinant of canine ‘hair’‐itability Animal genetics · 2006 · 73 citations
    23. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011 · 26 citations
    24. An efficient, non-invasive approach for in-vivo sampling of hair follicles: design and applications in monitoring DNA damage and aging Aging · 2021 · 12 citations
    25. 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
    26. Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family The Journal of Dermatology · 2013 · 5 citations
    27. Alopecia Areata is associated with MICA and an extended HLA haplotype Journal of the American Academy of Dermatology · 2004 · 1 citations
    28. Prevalence of MMP-1 rs1799750 Polymorphism in Androgenetic Alopecia: A Cross-Sectional Study in an Indonesia Population Molecular and Cellular Biomedical Sciences · 2025
    29. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    30. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations