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  1. 1
    A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea

    A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea von Hassan, H.A., Mazen, I., Gad, Y.Z., Ali, O.S.M., Mekkawy, M., Essawi, M.L.

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  2. 2
    Supplementary Material for: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

    Supplementary Material for: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency von Hassan, H.A., Mazen, I., Gad, Y.Z., O.S.M., Ali, Mekkawy, M., Essawi, M.L.

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