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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. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    4. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix Journal of Medical Genetics · 2005 · 79 citations
    5. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    6. 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
    7. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    8. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    9. Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome Journal of Clinical Investigation · 2022 · 9 citations
    10. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
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