Resultados de procura - Krabichler, Birgit

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso