Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy
Gutensohn, K, Müller, SP, Thomann, K, Stein, W, Suren, A, Körtge‐Jung, S, Schlüter, G, Legler, TJ
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2010)
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2010)
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Location and type of mutation in the LIS1 gene do not predict phenotypic severity
Uyanik, G, Morris-Rosendahl, D J, Stiegler, J, Klapecki, J, Gross, C, Berman, Y, Martin, P, Dey, L, Spranger, S, Korenke, G C, Schreyer, I, Hertzberg, C, Neumann, T E, Burkart, P, Spaich, C, Meng, M, Holthausen, H, Adès, L, Seidel, J, Mangold, E, Buyse, G, Meinecke, P, Schara, U, Zeschnigk, C, Muller, D, Helland, G, Schulze, B, Wright, M L, Kortge-Jung, S, Hehr, A, Bogdahn, U, Schuierer, G, Kohlhase, J, Aigner, L, Wolff, G, Hehr, U, Winkler, J
Published in Neurology (31.07.2007)
Published in Neurology (31.07.2007)
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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
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 (01.06.2005)
Published in Clinical genetics (01.06.2005)
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Journal Article
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
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 (01.07.2001)
Published in Human mutation (01.07.2001)
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Journal Article
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
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 (2001)
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Published in Human mutation (2001)
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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief
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 (01.07.2001)
Published in Human mutation (01.07.2001)
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Journal Article
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
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 (01.06.2005)
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Published in Clinical genetics (01.06.2005)
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