Search Results - Skomorowski, Marie-Anne

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  1. 1
    Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report

    Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report by Strasberg, Paula, Warren, Irene, Skomorowski, Marie-Anne, Feigenbaum, Annette

    Published in Human mutation
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  2. 2
    Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

    Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease by Bagshaw, Richard D, Zhang, Sunqu, Hinek, Alina, Skomorowski, Marie-Anne, Whelan, Donald, Clarke, Joe T.R, Callahan, John W

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  3. 3
    Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing

    Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing by Randell, Edward, Connolly-Wilson, Mary, Duff, Ann, Skomorowski, Marie-Anne, Callahan, John

    Published in Clinical biochemistry
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  4. 4
    Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

    Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up by Patel, Millan S., Callahan, John W., Zhang, Sunqu, Chan, Alicia K.J., Unger, Sheila, Levin, Alex V., Skomorowski, Marie-Anne, Feigenbaum, Annette S., O'Brien, Karel, Hellmann, Jonathan, Ryan, Greg, Velsher, Lea, Chitayat, David

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