Výsledky vyhledávání - Krabichler, Birgit

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene Autor Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

Získat plný text Získat plný text Získat plný text

A survey of tools for variant analysis of next-generation genome sequencing data Autor Pabinger, Stephan, Dander, Andreas, Fischer, Maria, Snajder, Rene, Sperk, Michael, Efremova, Mirjana, Krabichler, Birgit, Speicher, Michael R., Zschocke, Johannes, Trajanoski, Zlatko

Získat plný text Získat plný text Získat plný text

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation Autor Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andreas R

Získat plný text Získat plný text Získat plný text

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome Autor Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.

Získat plný text Získat plný text Získat plný text

The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations Autor Janecke, Andreas R., Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G., Gahl, William A., Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M., Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat

Získat plný text Získat plný text Získat plný text

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan Autor Lima Cunha, Dulce, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmüller, Janine, Nürnberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias, Alabdulkareem, Adnan S., Abdulaziz Alnutaifi, Kholood, Hennies, Hans Christian

Získat plný text Získat plný text Získat plný text

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome Autor Baas, Annette F, Gabbett, Michael, Rimac, Milan, Kansikas, Minttu, Raphael, Martine, Nievelstein, Rutger AJ, Nicholls, Wayne, Offerhaus, Johan, Bodmer, Danielle, Wernstedt, Annekatrin, Krabichler, Birgit, Strasser, Ulrich, Nyström, Minna, Zschocke, Johannes, Robertson, Stephen P, van Haelst, Mieke M, Wimmer, Katharina

Získat plný text Získat plný text Získat plný text

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta Autor Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk

Získat plný text Získat plný text Získat plný text

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea Autor Heinz-Erian, Peter, Müller, Thomas, Krabichler, Birgit, Schranz, Melanie, Becker, Christian, Rüschendorf, Franz, Nürnberg, Peter, Rossier, Bernard, Vujic, Mihailo, Booth, Ian W., Holmberg, Christer, Wijmenga, Cisca, Grigelioniene, Giedre, Kneepkens, C. M. Frank, Rosipal, Stefan, Mistrik, Martin, Kappler, Matthias, Michaud, Laurent, Dóczy, Ludwig-Christoph, Siu, Victoria Mok, Krantz, Marie, Zoller, Heinz, Utermann, Gerd, Janecke, Andreas R.

Získat plný text Získat plný text Získat plný text

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Autor Baumann, Matthias, Giunta, Cecilia, Krabichler, Birgit, Rüschendorf, Franz, Zoppi, Nicoletta, Colombi, Marina, Bittner, Reginald E., Quijano-Roy, Susana, Muntoni, Francesco, Cirak, Sebahattin, Schreiber, Gudrun, Zou, Yaqun, Hu, Ying, Romero, Norma Beatriz, Carlier, Robert Yves, Amberger, Albert, Deutschmann, Andrea, Straub, Volker, Rohrbach, Marianne, Steinmann, Beat, Rostásy, Kevin, Karall, Daniela, Bönnemann, Carsten G., Zschocke, Johannes, Fauth, Christine

Získat plný text Získat plný text Získat plný text

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway Autor Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin

Získat plný text Získat plný text Získat plný text