Search Results - Körtge‐Jung, S

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  1. 1
    Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy

    Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy by Gutensohn, K, Müller, SP, Thomann, K, Stein, W, Suren, A, Körtge‐Jung, S, Schlüter, G, Legler, TJ

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  2. 2
    Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis

    Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation doe... by Derichs, N., Schuster, A., Grund, I., Ernsting, A., Stolpe, C., Körtge-Jung, S., Gallati, S., Stuhrmann, M., Kozlowski, P., Ballmann, M.

    Published in Clinical genetics
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  3. 3
    Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

    Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia by Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Körtge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, E.

    Published in Human mutation
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  4. 4
    P03.32: Prenatal ultrasound findings in trisomy 22: five case reports and a review of the literature

    P03.32: Prenatal ultrasound findings in trisomy 22: five case reports and a review of the literature by Stressig, R., Körtge‐Jung, S., Hickmann, G., Kozlowski, P.

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  5. 5
    Prenatal Sonographic Findings in Trisomy 22: Five Case Reports and Review of the Literature

    Prenatal Sonographic Findings in Trisomy 22: Five Case Reports and Review of the Literature by Stressig, Rudiger, Kortge-Jung, Stefani, Hickmann, Gaby, Kozlowski, Peter

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  6. 6
    Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief

    Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief by Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Körtge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, E.

    Published in Human mutation
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  7. 7
    Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

    Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation doe... by Derichs, N, Schuster, A, Grund, I, Ernsting, A, Stolpe, C, Körtge-Jung, S, Gallati, S, Stuhrmann, M, Kozlowski, P, Ballmann, M

    Published in Clinical genetics
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  8. 8
    Twelve novel mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, 998-1T, A382S, V406A) in the tissue-non specific alkaline phosphatase (TNSALP) gene in patients with various forms of Hypophosphatasia

    Twelve novel mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, 998-1T, A382S, V406A) in the tissue-non specific alkaline phosphatase (TNSALP) gene in patients... by Taillandier, A., Lia-Baldini, Anne-Sophie, Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Eckhard, J., Gaillard, Déborah, Grethe Myhre, A., Kortge-Jung, S., Larget-Piet, L., Libaers, I., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, Etienne

    Published in Human mutation
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  9. 9
    Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

    Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling by Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne

    Published in Prenatal diagnosis
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  10. 10
    Prenatal Sonographic Findings in Trisomy 22

    Prenatal Sonographic Findings in Trisomy 22 by Stressig, Rüdiger, Körtge-Jung, Stefani, Hickmann, Gaby, Kozlowski, Peter

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