Хайлтын үр дүнгүүд - Schottmann, Gudrun

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy -н Schottmann, Gudrun, Seelow, Dominik, Seifert, Franziska, Morales-Gonzalez, Susanne, Gill, Esther, von Au, Katja, von Moers, Arpad, Stenzel, Werner, Schuelke, Markus

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis -н Gusic, Mirjana, Schottmann, Gudrun, Feichtinger, René G., Du, Chen, Scholz, Caroline, Wagner, Matias, Mayr, Johannes A., Lee, Chae-Young, Yépez, Vicente A., Lorenz, Norbert, Morales-Gonzalez, Susanne, Panneman, Daan M., Rötig, Agnès, Rodenburg, Richard J.T., Wortmann, Saskia B., Prokisch, Holger, Schuelke, Markus

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures -н Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies -н Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, Michal

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement -н Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? -н Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах