Search Results - Thusberg, J.

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  1. 1
    The structural basis of hyper IgM deficiency – CD40L mutations

    The structural basis of hyper IgM deficiency – CD40L mutations by Thusberg, J., Vihinen, M.

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  2. 2
    Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

    Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort by Funghini, S., Thusberg, J., Spada, M., Gasperini, S., Parini, R., Ventura, L., Meli, C., De Cosmo, L., Sibilio, M., Mooney, S.D., Guerrini, R., Donati, M.A., Morrone, A.

    Published in Gene
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  3. 3
    Detection of Pathogenic Mutation Prone Locations from Protein Sequences using Solvent Accessibility Measurements

    Detection of Pathogenic Mutation Prone Locations from Protein Sequences using Solvent Accessibility Measurements by Ahdesmaki, M., Thusberg, J., Huttunen, H., Vihinen, M., Yli-Harja, O.

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  4. 4
    An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

    An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects by ACKERMAN, Christine, LOCKE, Adam E, REEVES, Roger H, SHERMAN, Stephanie L, MASLEN, Cheryl L, FEINGOLD, Eleanor, RESHEY, Benjamin, ESPANA, Karina, THUSBERG, Janita, MOONEY, Sean, BEAN, Lora J. H, DOOLEY, Kenneth J, CUA, Clifford L

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  5. 5
    Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death

    Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic v... by Fan, Yue-Mei, Karhunen, Pekka J, Levula, Mari, Ilveskoski, Erkki, Mikkelsson, Jussi, Kajander, Olli A, Järvinen, Otso, Oksala, Niku, Thusberg, Janita, Vihinen, Mauno, Salenius, Juha-Pekka, Kytömäki, Leena, Soini, Juhani T, Laaksonen, Reijo, Lehtimäki, Terho

    Published in Thrombosis journal
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  6. 6
    Expression of sterol regulatory element-binding transcription factor in human atheroma and the association of their allelic variants with sudden cardiac death

    Expression of sterol regulatory element-binding transcription factor in human atheroma and the association of their allelic variants with sudden cardiac death by Fan, Yue-Mei, Karhunen, Pekka J, Levula, Mari, Ilveskoski, Erkki, Mikkelsson, Jussi, Kajander, Olli A, Jarvinen, Otso, Oksala, Niku, Thusberg, Janita, Vihinen, Mauno, Salenius, Juha-Pekka, Kytomaki, Leena, Soini, Juhani T, Laaksonen, Reijo, Lehtimaki, Terho

    Published in Thrombosis journal
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