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    Research 241–270 of 1000+

    1. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    2. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    3. Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism American Journal of Case Reports · 2020 · 3 citations
    4. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    5. Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous Diagnostics · 2022 · 5 citations
    6. Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels Kuwait Journal of Science · 2025
    7. Interleukin 15 Gene Polymorphism in patients with Alopecia Areata The Egyptian Journal of Hospital Medicine · 2022
    8. Understanding autoimmunity of vitiligo and alopecia areata 2016 · 74 citations
    9. Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family Journal of Investigative Dermatology · 2012 · 52 citations
    10. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    11. Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family 2002 · 48 citations
    12. Cutaneous consequences of inhibiting EGF receptor signaling in vivo: Normal hair follicle development, but retarded hair cycle induction and inhibition of adipocyte growth in EgfrWa5 mice Journal of Dermatological Science · 2010 · 32 citations
    13. Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype Journal of Investigative Dermatology · 2007 · 11 citations
    14. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    15. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    16. Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review Frontiers in Pharmacology · 2023 · 1 citations
    17. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    18. The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep Agritrop (Cirad) · 2002
    19. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    20. Identification of VLDL as a biomarker for prewarning of androgenic alopecia Skin research and technology · 2024
    21. Mesenchymal Stem Cells With Modification of Junctional Adhesion Molecule A Induce Hair Formation Stem cells translational medicine · 2014 · 8 citations
    22. 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
    23. Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults F1000Research · 2021 · 5 citations
    24. Vitamin D Receptor gene polymorphisms taq-1 and cdx-1 in female pattern hair loss Indian Journal of Dermatology · 2020 · 3 citations
    25. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    26. Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes Journal of Investigative Dermatology · 1998 · 169 citations
    27. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    28. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    29. The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity Journal of Allergy and Clinical Immunology · 2010 · 55 citations
    30. Regulation of stem cell function by protein ubiquitylation EMBO Reports · 2014 · 55 citations