検索結果 - Lorenz-Depiereux, Bettina 

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets 著者: Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

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A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India 著者: Dayal, Devi, Gupta, Shruti, Kumar, Rakesh, Srinivasan, Radhika, Lorenz-Depiereux, Bettina, Strom, Tim M

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Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation 著者: Wagenstaller, Janine , Spranger, Stephanie , Lorenz-Depiereux, Bettina , Kazmierczak, Bernd , Nathrath, Michaela , Wahl, Dagmar , Heye, Babett , Gläser, Dieter , Liebscher, Volkmar , Meitinger, Thomas , Strom, Tim M. 

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 著者: Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

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New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice 著者: Lorenz-Depiereux, Bettina, Guido, Victoria E., Johnson, Kenneth R., Zheng, Qing Yin, Gagnon, Leona H., Bauschatz, Joiel D., Davisson, Muriel T., Washburn, Linda L., Donahue, Leah Rae, Strom, Tim M., Eicher, Eva M.

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A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes 著者: Chhabra, Nirav Florian, Amend, Anna–Lena, Bastidas-Ponce, Aimée, Sabrautzki, Sibylle, Tarquis-Medina, Marta, Sachs, Stephan, Rubey, Marina, Lorenz-Depiereux, Bettina, Feuchtinger, Annette, Bakhti, Mostafa, Lickert, Heiko, Przemeck, Gerhard K.H., Hrabě de Angelis, Martin

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New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis 著者: Sabrautzki, Sibylle, Rubio-Aliaga, Isabel, Hans, Wolfgang, Fuchs, Helmut, Rathkolb, Birgit, Calzada-Wack, Julia, Cohrs, Christian M., Klaften, Matthias, Seedorf, Hartwig, Eck, Sebastian, Benet-Pagès, Ana, Favor, Jack, Esposito, Irene, Strom, Tim M., Wolf, Eckhard, Lorenz-Depiereux, Bettina, Hrabě de Angelis, Martin

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Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 著者: Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis 著者: Lorenz-Depiereux, Bettina, Bastepe, Murat, Benet-Pagès, Anna, Amyere, Mustapha, Wagenstaller, Janine, Müller-Barth, Ursula, Badenhoop, Klaus, Kaiser, Stephanie M, Rittmaster, Roger S, Shlossberg, Alan H, Olivares, José L, Loris, César, Ramos, Feliciano J, Glorieux, Francis, Vikkula, Miikka, Jüppner, Harald, Strom, Tim M

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Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits 著者: Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P, Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R, Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A, Strom, Tim M

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Viable Ednra(Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation 著者: Sabrautzki, Sibylle, Sandholzer, Michael A., Lorenz-Depiereux, Bettina, Brommage, Robert, Przemeck, Gerhard, Vargas Panesso, Ingrid L., Vernaleken, Alexandra, Garrett, Lillian, Baron, Katharina, Yildirim, Ali O., Rozman, Jan, Rathkolb, Birgit, Gau, Christine, Hans, Wolfgang, Hoelter, Sabine M., Marschall, Susan, Stoeger, Claudia, Becker, Lore, Fuchs, Helmut, Gailus-Durner, Valerie, Klingenspor, Martin, Klopstock, Thomas, Lengger, Christoph, Stefanie, Leuchtenberger, Wolf, Eckhard, Strom, Tim M., Wurst, Wolfgang, de Angelis, Martin Hrabě

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The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations 著者: Fuchs, Helmut, Sabrautzki, Sibylle, Przemeck, Gerhard K. H., Leuchtenberger, Stefanie, Lorenz-Depiereux, Bettina, Becker, Lore, Rathkolb, Birgit, Horsch, Marion, Garrett, Lillian, Östereicher, Manuela A., Hans, Wolfgang, Abe, Koichiro, Sagawa, Nobuho, Rozman, Jan, Vargas-Panesso, Ingrid L., Sandholzer, Michael, Lisse, Thomas S., Adler, Thure, Aguilar-Pimentel, Juan Antonio, Calzada-Wack, Julia, Ehrhard, Nicole, Elvert, Ralf, Gau, Christine, Hölter, Sabine M., Micklich, Katja, Moreth, Kristin, Prehn, Cornelia, Puk, Oliver, Racz, Ildiko, Stoeger, Claudia, Vernaleken, Alexandra, Michel, Dian, Diener, Susanne, Wieland, Thomas, Adamski, Jerzy, Bekeredjian, Raffi, Busch, Dirk H., Favor, John, Graw, Jochen, Klingenspor, Martin, Lengger, Christoph, Maier, Holger, Neff, Frauke, Ollert, Markus, Stoeger, Tobias, Yildirim, Ali Önder, Strom, Tim M., Zimmer, Andreas, Wolf, Eckhard, Wurst, Wolfgang, Klopstock, Thomas, Beckers, Johannes, Gailus-Durner, Valerie, Hrabé de Angelis, Martin

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The German National Pandemic Cohort Network (NAPKON): rationale, study design and baseline characteristics 著者: Schons, Maximilian, Pilgram, Lisa, Reese, Jens-Peter, Stecher, Melanie, Anton, Gabriele, Appel, Katharina S., Bahmer, Thomas, Bartschke, Alexander, Bellinghausen, Carla, Bernemann, Inga, Brechtel, Markus, Brinkmann, Folke, Brünn, Clara, Dhillon, Christine, Fiessler, Cornelia, Geisler, Ramsia, Hamelmann, Eckard, Hansch, Stefan, Hanses, Frank, Hanß, Sabine, Herold, Susanne, Heyder, Ralf, Hofmann, Anna-Lena, Hopff, Sina Marie, Horn, Anna, Jakob, Carolin, Jiru-Hillmann, Steffi, Keil, Thomas, Khodamoradi, Yascha, Kohls, Mirjam, Kraus, Monika, Krefting, Dagmar, Kunze, Sonja, Kurth, Florian, Lieb, Wolfgang, Lippert, Lena Johanna, Lorbeer, Roberto, Lorenz-Depiereux, Bettina, Maetzler, Corina, Miljukov, Olga, Nauck, Matthias, Pape, Daniel, Püntmann, Valentina, Reinke, Lennart, Römmele, Christoph, Rudolph, Stefanie, Sass, Julian, Schäfer, Christian, Schaller, Jens, Schattschneider, Mario, Scheer, Christian, Scherer, Margarete, Schmidt, Sein, Schmidt, Julia, Seibel, Kristina, Stahl, Dana, Steinbeis, Fridolin, Störk, Stefan, Tauchert, Maike, Tebbe, Johannes Josef, Thibeault, Charlotte, Toepfner, Nicole, Ungethüm, Kathrin, Vadasz, Istvan, Valentin, Heike, Wiedmann, Silke, Zoller, Thomas, Nagel, Eike, Krawczak, Michael, von Kalle, Christof, Illig, Thomas, Schreiber, Stefan, Witzenrath, Martin, Heuschmann, Peter, Vehreschild, Jörg Janne

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