Search Results - Mustajoki, Sami

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  1. 1
    Severe hyponatraemia (P-Na < 116 mmol/l) in the emergency department: a series of 394 cases

    Severe hyponatraemia (P-Na < 116 mmol/l) in the emergency department: a series of 394 cases by Mustajoki, Sami

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  2. 2
    Extreme anemia (hemoglobin < 5 G/DL) at the emergency department

    Extreme anemia (hemoglobin < 5 G/DL) at the emergency department by Mustajoki, Sami, Heikkilä, Anttimikael

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  3. 3
    Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

    Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation by van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.

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  4. 4
    A controlled survey of less typical long-term consequences after an extensive waterborne epidemic

    A controlled survey of less typical long-term consequences after an extensive waterborne epidemic by Laine, Janne, Laine, Outi, Lumio, Jukka, Antonen, Jaakko, Toikkanen, Salla, Virtanen, Mikko J, Kuusi, Markku

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  5. 5
    An extensive gastroenteritis outbreak after drinking-water contamination by sewage effluent, Finland

    An extensive gastroenteritis outbreak after drinking-water contamination by sewage effluent, Finland by LAINE, J., HUOVINEN, E., VIRTANEN, M. J., SNELLMAN, M., LUMIO, J., RUUTU, P., KUJANSUU, E., VUENTO, R., PITKÄNEN, T., MIETTINEN, I., HERRALA, J., LEPISTÖ, O., ANTONEN, J., HELENIUS, J., HÄNNINEN, M.-L., MAUNULA, L., MUSTONEN, J., KUUSI, M.

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  6. 6
    Insertion of Alu element responsible for acute intermittent porphyria

    Insertion of Alu element responsible for acute intermittent porphyria by Mustajoki, Sami, Ahola, Helena, Mustajoki, Pertti, Kauppinen, Raili

    Published in Human mutation
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  7. 7
    Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells

    Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells by Mustajoki, S, Laine, M, Lahtela, M, Mustajoki, P, Peltonen, L, Kauppinen, R

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  8. 8
    Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

    Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria by MUSTAJOKI, S, PIHLAJA, H, AHOLA, H, PETERSEN, N. E, MUSTAJOKI, P, KAUPPINEN, R

    Published in Human genetics
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  9. 9
    Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

    Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria by Mustajoki, S, Kauppinen, R, Mustajoki, P, Suomalainen, A, Peltonen, L

    Published in Genome research
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  10. 10
    Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

    Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis by Nissen, Henrik, Petersen, Niels Erik, Mustajoki, Sami, Hansen, Torben Stiig, Mustajoki, Pertti, Kauppinen, Raili, Hørder, Mogens

    Published in Human mutation
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