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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
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