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    1. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations
    2. Informàtica i Dret penal: Els delictes relatius a la informàtica Studia iuridica · 1996
    3. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    4. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    5. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor Journal of Bone and Mineral Research · 2011 · 37 citations
    6. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix Journal of Medical Genetics · 2005 · 79 citations
    7. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Nature Communications · 2016 · 196 citations
    8. Identification of a preferred substrate peptide for transglutaminase 3 and detection of <i>in situ</i> activity in skin and hair follicles ˜The œFEBS journal · 2010 · 35 citations
    9. Mechanisms of proton inhibition and sensitization of the cation channel TRPV3 The Journal of General Physiology · 2020 · 15 citations
    10. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    11. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    12. Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome Journal of Clinical Investigation · 2022 · 9 citations
    13. 5α-Reductase inhibitors, antiviral and anti-tumor activities of some steroidal cyanopyridinone derivatives International Journal of Biological Macromolecules · 2011 · 26 citations
    14. Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    15. Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    16. Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep Open Journal of Genetics · 2011 · 26 citations
    17. Polysaccharides from Traditional Chinese Medicines: Extraction, Purification, Modification, and Biological Activity Molecules · 2016 · 125 citations
    18. Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene Clinical Pediatric Endocrinology · 1992 · 3 citations
    19. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    20. A Case of Familial Male-limited Precocious Puberty with a Novel Mutation JCRPE · 2020 · 6 citations
    21. Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele Cancer Causes & Control · 2017
    22. Applications of Marine Organism-Derived Polydeoxyribonucleotide: Its Potential in Biomedical Engineering Marine Drugs · 2021 · 14 citations
    23. Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis Bioinformation · 2012 · 3 citations
    24. Nanocarrier Systems for Transdermal Drug Delivery InTech eBooks · 2012 · 13 citations
    25. Regulatory T Cells: the Many Faces of Foxp3 Journal of Clinical Immunology · 2019 · 125 citations
    26. Synthesis and Structure–Activity Relationships of the First Ferrocenyl-Aryl-Hydantoin Derivatives of the Nonsteroidal Antiandrogen Nilutamide Journal of Medicinal Chemistry · 2008 · 88 citations
    27. Androgen receptors and their biology Vitamins and hormones · 2001 · 66 citations
    28. Perspectives of Kennedy's disease Journal of the Neurological Sciences · 2010 · 65 citations
    29. Topical Delivery of Protein and Peptide Using Novel Cell Penetrating Peptide IMT-P8 Scientific reports · 2016 · 61 citations
    30. Lymphoid Enhancer-binding Factor-1 (LEF1) Interacts with the DNA-binding Domain of the Vitamin D Receptor Journal of Biological Chemistry · 2011 · 37 citations