A survey of tools for variant analysis of next-generation genome sequencing data
Pabinger, Stephan, Dander, Andreas, Fischer, Maria, Snajder, Rene, Sperk, Michael, Efremova, Mirjana, Krabichler, Birgit, Speicher, Michael R, Zschocke, Johannes, Trajanoski, Zlatko
Published in Briefings in bioinformatics (01.03.2014)
Published in Briefings in bioinformatics (01.03.2014)
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Journal Article
Modification of risk for cancer as a coincidental finding in DNA array investigation
Rostasy, K, Fauth, C, Gautsch, K, Laimer, I, Krabichler, B, Wimmer, K, Frühmesser, A, Kotzot, D, Moshir, S
Published in Clinical genetics (01.03.2013)
Published in Clinical genetics (01.03.2013)
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Journal Article
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
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
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
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
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
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.
Published in American journal of human genetics (13.02.2009)
Published in American journal of human genetics (13.02.2009)
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Journal Article
Familial occurrence of a 16p13 microdeletion including GRIN2A as a cause of developmental delay and epilepsy with continuous spike and waves during sleep
Baumann, M, Haberlandt, E, Spreiz, A, Krabichler, B, Kotzot, D, Zschocke, J, Fauth, C
Published in Neuropediatrics (26.03.2013)
Published in Neuropediatrics (26.03.2013)
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Conference Proceeding
A novel variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss – a differential diagnosis in floppy infant syndrome
Baumann, M, Giunta, C, Bönnemann, C, Quijano-Roy, S, Muntoni, F, Cirak, S, Schreiber, G, Bittner, R, Colombi, M, Rohrbach, M, Steinmann, B, Rostásy, K, Krabichler, B, Zschocke, J, Fauth, C
Published in Neuropediatrics (03.04.2012)
Published in Neuropediatrics (03.04.2012)
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Conference Proceeding