A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Sadowski, Carolin E, Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L, Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J, Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P, Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A, Zenker, Martin, Kemper, Markus J, Mueller, Dominik, Fathy, Hanan M, Soliman, Neveen A, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.06.2015)
Published in Journal of the American Society of Nephrology (01.06.2015)
Get full text
Journal Article
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Published in Kidney international (01.06.2014)
Published in Kidney international (01.06.2014)
Get full text
Journal Article
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
Kohl, Stefan, Habbig, Sandra, Weber, Lutz T., Liebau, Max C.
Published in Molecular and cellular pediatrics (24.02.2021)
Published in Molecular and cellular pediatrics (24.02.2021)
Get full text
Journal Article
Increasing Sucrose Uptake Capacity of Wheat Grains Stimulates Storage Protein Synthesis
Weichert, Nicola, Saalbach, Isolde, Weichert, Heiko, Kohl, Stefan, Erban, Alexander, Kopka, Joachim, Hause, Bettina, Varshney, Alok, Sreenivasulu, Nese, Strickert, Marc, Kumlehn, Jochen, Weschke, Winfriede, Weber, Hans
Published in Plant physiology (Bethesda) (01.02.2010)
Published in Plant physiology (Bethesda) (01.02.2010)
Get full text
Journal Article
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
Vivante, Asaf, Kleppa, Marc-Jens, Schulz, Julian, Kohl, Stefan, Sharma, Amita, Chen, Jing, Shril, Shirlee, Hwang, Daw-Yang, Weiss, Anna-Carina, Kaminski, Michael M., Shukrun, Rachel, Kemper, Markus J., Lehnhardt, Anja, Beetz, Rolf, Sanna-Cherchi, Simone, Verbitsky, Miguel, Gharavi, Ali G., Stuart, Helen M., Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Woolf, Adrian S., Westra, Sjirk J., Doody, Daniel P., Bauer, Stuart B., Lee, Richard S., Adam, Rosalyn M., Lu, Weining, Reutter, Heiko M., Kehinde, Elijah O., Mancini, Erika J., Lifton, Richard P., Tasic, Velibor, Lienkamp, Soeren S., Jüppner, Harald, Kispert, Andreas, Hildebrandt, Friedhelm
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
Get full text
Journal Article
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C., Schulz, Julian, van Eerde, Albertien M., Hilger, Alina C., Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G., van de Hoek, Glenn, Renkema, Kirsten Y., Schell, Christoph, Huber, Tobias B., Reutter, Heiko M., Soliman, Neveen A., Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O., Lifton, Richard P., Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm
Published in Human genetics (01.08.2015)
Published in Human genetics (01.08.2015)
Get full text
Journal Article
Transposition of a bacterial insertion sequence in chloroplasts
Kohl, Stefan, Bock, Ralph
Published in The Plant journal : for cell and molecular biology (01.05.2009)
Published in The Plant journal : for cell and molecular biology (01.05.2009)
Get full text
Journal Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Published in Kidney international (01.04.2014)
Published in Kidney international (01.04.2014)
Get full text
Journal Article
Hormone-mediated growth dynamics of the barley pericarp as revealed by magnetic resonance imaging and transcript profiling
Pielot, Rainer, Kohl, Stefan, Manz, Bertram, Rutten, Twan, Weier, Diana, Tarkowská, Danuše, Rolčík, Jakub, Strnad, Miroslav, Volke, Frank, Weber, Hans, Weschke, Winfriede
Published in Journal of experimental botany (01.11.2015)
Published in Journal of experimental botany (01.11.2015)
Get full text
Journal Article
A putative role for amino acid permeases in sink-source communication of barley tissues uncovered by RNA-seq
Kohl, Stefan, Hollmann, Julien, Blattner, Frank R, Radchuk, Volodymyr, Andersch, Franka, Steuernagel, Burkhard, Schmutzer, Thomas, Scholz, Uwe, Krupinska, Karin, Weber, Hans, Weschke, Winfriede
Published in BMC plant biology (30.08.2012)
Published in BMC plant biology (30.08.2012)
Get full text
Journal Article
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
Published in Genome medicine (23.08.2023)
Published in Genome medicine (23.08.2023)
Get full text
Journal Article
Microtubule Associated Protein 1b (MAP1B) Is a Marker of the Microtubular Cytoskeleton in Podocytes but Is Not Essential for the Function of the Kidney Filtration Barrier in Mice
Gödel, Markus, Temerinac, Dunja, Grahammer, Florian, Hartleben, Björn, Kretz, Oliver, Riederer, Beat M, Propst, Friedrich, Kohl, Stefan, Huber, Tobias B
Published in PloS one (08.10.2015)
Published in PloS one (08.10.2015)
Get full text
Journal Article
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
van der Ven, Amelie T, Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M, Mann, Nina, Widmeier, Eugen, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor, Kehinde, Elijah O, Mane, Shrikant M, Lifton, Richard P, Soliman, Neveen, Lu, Weining, Bauer, Stuart B, Hammerschmidt, Matthias, Wagener, Raimund, Hildebrandt, Friedhelm
Published in PloS one (19.01.2018)
Published in PloS one (19.01.2018)
Get full text
Journal Article
Box dimension of fractal attractors and their numerical computation
Freiberg, Uta, Kohl, Stefan
Published in Communications in nonlinear science & numerical simulation (01.04.2021)
Published in Communications in nonlinear science & numerical simulation (01.04.2021)
Get full text
Journal Article
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.09.2014)
Published in Journal of the American Society of Nephrology (01.09.2014)
Get full text
Journal Article
3T MRI characteristics of the palatine tonsil in brachycephalic dogs
Köhler, Claudia, Fromme, Vivian, Kohl, Stefan, Winter, Karsten, Weidauer, Jenny, Kiefer, Ingmar
Published in Veterinary record (01.03.2022)
Published in Veterinary record (01.03.2022)
Get full text
Journal Article