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    Research 151–180 of 802

    1. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    2. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    3. Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak BMC Genomics · 2024 · 5 citations
    4. Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium AFRICAN JOURNAL OF BIOTECHNOLOGY · 2011 · 2 citations
    5. <i>WNT10A</i> , dermatology and dentistry British Journal of Dermatology · 2021 · 30 citations
    6. The oestrogen receptor 2 (<i>ESR2</i>) gene in female-pattern hair loss: replication of association with rs10137185 in German patients British Journal of Dermatology · 2013 · 4 citations
    7. Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination Frontiers in Genetics · 2025 · 2 citations
    8. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    9. Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men 2012 · 78 citations
    10. Registrars’ Symposium: Summaries of Papers British Journal of Dermatology · 2006
    11. Gene-Environment Interaction Between <i>CYP1B1</i> and Oral Contraception on Frontal Fibrosing Alopecia JAMA Dermatology · 2024
    12. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    13. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 2020
    14. An epistatic effect of KRT25 on SP6 is involved in curly coat in horses Scientific Reports · 2018 · 13 citations
    15. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    16. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    17. Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype BMC genomics · 2024
    18. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    19. 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation Journal of Investigative Dermatology · 2017
    20. NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease Journal of Gastroenterology · 2015 · 86 citations
    21. Unravelling the threads of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2026
    22. The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome Frontiers in Endocrinology · 2023
    23. Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep Genes · 2024
    24. The genetics of autism and steroid-related traits in prenatal and postnatal life Frontiers in Endocrinology · 2023 · 1 citations
    25. Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype JCEM Case Reports · 2025
    26. Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations Scientific reports · 2018 · 58 citations
    27. Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles International Journal of Molecular Sciences · 2020 · 10 citations
    28. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    29. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    30. Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients Medicina · 2024 · 1 citations