Rezultaty - Stefan Kohl

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  1. 1
    Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)

    Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT) od Stefan Kohl, Sandra Habbig, Lutz T. Weber, Max C. Liebau

    Wydane 2021
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  2. 2
    Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

    Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans od Asaf Vivante, Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Friedhelm Hildebrandt

    Wydane 2014
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  3. 3
    Identification of cyanobacterial non-coding RNAs by comparative genome analysis.

    Identification of cyanobacterial non-coding RNAs by comparative genome analysis. od Ilka M. Axmann, Philip Kensche, Jörg Vogel, Stefan Kohl, Hanspeter Herzel, Wolfgang R. Hess

    Wydane 2005
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  4. 4
    Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

    Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy od Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto

    Wydane 2013
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  5. 5
    Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

    Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract od Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Nataša Stajić, Radovan Bogdanović, Heiko Reutter, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt

    Wydane 2014
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  6. 6
    Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

    Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract od Daw‐Yang Hwang, Gabriel C. Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C. Hilger, Heiko Reutter, Neveen A. Soliman, Radovan Bogdanović, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt

    Wydane 2014
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  7. 7
    Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

    Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract od Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb H. Daouk, Neveen A. Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt

    Wydane 2016
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  8. 8
    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association

    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association od Alina C. Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A. Braun, Jonathan D. Porath, Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Bernhard G. Hermann, Anna Pavlova, Osman El‐Maarri, Markus M. Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt

    Wydane 2015
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  9. 9
    Urinary Dickkopf-related protein 3 as a novel biomarker for kidney function decline in children with Alport syndrome

    Urinary Dickkopf-related protein 3 as a novel biomarker for kidney function decline in children with Alport syndrome od Jan Boeckhaus, Burkhard Tönshoff, Lutz T. Weber, Lars Pape, Kay Latta, Henry Fehrenbach, Baerbel Lange‐Sperandio, Matthias Kettwig, Sabine König, Ulrike John-Kroegel, Jutta Gellermann, Matthias Galiano, Shekib A. Jami, Dennis Pieper, Gry H. Dihazi, Angelika Hafke, Stefan Kohl, Max C. Liebau, Jens König, Dieter Haffner, Oliver Groß, Manuel Wallbach

    Wydane 2025
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  10. 10
    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome od Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E. Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun‐yi Zhu, Julia Hoefele, Lutz T. Weber, Ľudmila Podracká, A Böör, Henry Fehrenbach, Jeffrey W. Innis, Joseph Washburn, Shawn Levy, Richard P. Lifton, Edgar A. Otto, Zhe Han, Friedhelm Hildebrandt

    Wydane 2015
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  11. 11
    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome od Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J.G. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Böckenhauer, Sherif M. El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik N Mueller, Hanan Fathy, Neveen A. Soliman, Friedhelm Hildebrandt

    Wydane 2014
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  12. 12
    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome od Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne Adina Astrinidis, Werner L. Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A. Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won‐Il Choi, Tobias Hermle, Markus J. Kemper, Martin Pöhl, Fatih Özaltın, Martin Konrad, Radovan Bogdanović, Rainer Büscher, U. Helmchen, Erkin Serdaroğlu, Richard P. Lifton, Wolfram Antonin, Friedhelm Hildebrandt

    Wydane 2016
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  13. 13
    Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

    Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract od Daw‐Yang Hwang, Stefan Kohl, Xueping Fan, Asaf Vivante, Stefanie Chan, Gabriel C. Dworschak, Julian Schulz, Albertien M. van Eerde, Alina C. Hilger, Heon Yung Gee, Tracie Pennimpede, Bernhard G. Herrmann, Glenn van de Hoek, Kirsten Y. Renkema, Christoph Schell, Tobias B. Huber, Heiko Reutter, Neveen A. Soliman, Nataša Stajić, Radovan Bogdanović, Elijah O. Kehinde, Richard P. Lifton, Velibor Tasić, Lu W, Friedhelm Hildebrandt

    Wydane 2015
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  14. 14
    Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

    Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development od Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, Stefan Kohl, Amita Sharma, Jing Chen, Shirlee Shril, Daw‐Yang Hwang, Anna-Carina Weiss, Michael M. Kaminski, Rachel Shukrun, Markus J. Kemper, A. Lehnhardt, Rolf Beetz, Simone Sanna‐Cherchi, Miguel Verbitsky, Ali G. Gharavi, Helen M. Stuart, Sally Feather, Judith A. Goodship, Timothy H.J. Goodship, Adrian S. Woolf, Sjirk J. Westra, Daniel P. Doody, Stuart B. Bauer, Richard S. Lee, Rosalyn M. Adam, Lu W, Heiko Reutter, Elijah O. Kehinde, Erika J. Mancini, Richard P. Lifton, Velibor Tasić, Soeren S. Lienkamp, Harald Jüppner, Andreas Kispert, Friedhelm Hildebrandt

    Wydane 2015
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  15. 15
    Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

    Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype od Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh, Patrick R. Sears, Stephanie D. Davis, Whitney Wolf, Milan J. Hazucha, Johnny L. Carson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Thomas W. Ferkol, Sharon Dell, Carlos Milla, Scott H. Randell, Weining Yin, Aruna Sannuti, Hilda Metjian, Peadar G. Noone, Peter J. Noone, Christina A. Olson, Michael V. Patrone, Hong Dang, Hye Seung Lee, Toby W. Hurd, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Stefan Kohl, Martin Kircher, Jeffrey P. Krischer, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Maimoona A. Zariwala

    Wydane 2014
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  16. 16
    Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

    Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association od Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw‐Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasić, Tracie Pennimpede, S. Natarajan, Ethan D. Sperry, Danilo Swann Matassa, Nataša Stajić, Radovan Bogdanović, Ivo de Blaauw, Carlo Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff‐Derr, Stefan Holland‐Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo A. Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko Reutter, Friedhelm Hildebrandt

    Wydane 2013
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  17. 17
    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies od Heon Yung Gee, Edgar A. Otto, Toby W. Hurd, Shazia Ashraf, Moumita Chaki, Andrew Cluckey, Virginia Vega-Warner, Pawaree Saisawat, Katrina A. Diaz, Humphrey Fang, Stefan Kohl, Susan J. Allen, Rannar Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L. Innis, Stefanie Weber, Udo Vester, Erica E. Davis, Nicholas Katsanis, Hanan Fathy, Nikola Jeck, Günther Klaus, Ahmet Nayır, Khawla A. Rahim, Ibrahim Al Attrach, Ibrahim Al Hassoun, Savaş Öztürk, Dorota Drożdż, U. Helmchen, John F. O’Toole, Massimo Attanasio, Richard A. Lewis, Gudrun Nürnberg, Peter Nürnberg, Joseph Washburn, James W. MacDonald, Jeffrey W. Innis, Shawn Levy, Friedhelm Hildebrandt

    Wydane 2013
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  18. 18
    Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

    Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia od Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala, Renée M. Gilberti, Heon Yung Gee, Nathan E. Hellman, Narendra Pathak, Yan Liu, Jennifer R. Panizzi, Ramila S. Patel‐King, Douglas Tritschler, Raqual Bower, Eileen O’Toole, Jonathan D. Porath, Toby W. Hurd, Moumita Chaki, Katrina A. Diaz, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Daniela A. Braun, Markus Schueler, Rannar Airik, Edgar A. Otto, Margaret W. Leigh, Peadar G. Noone, Johnny L. Carson, Stephanie D. Davis, Jessica E. Pittman, Thomas W. Ferkol, Jeffrey J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Sharon Dell, Margaret Rosenfeld, Carlos Milla, Niki T. Loges, Heymut Omran, Mary E. Porter, Stephen M. King, Michael R. Knowles, Iain A. Drummond, Friedhelm Hildebrandt

    Wydane 2013
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  19. 19
    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 od Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julián Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, S. Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim G. Nielsen, Nicolaus Schwerk, Jadranka Sertić, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner‐Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

    Wydane 2013
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  20. 20
    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome od Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst‐Schwan, Eugen Widmeier, Amar J. Majmundar, Ronen Schneider, Heon Yung Gee, Johanna Magdalena Schmidt, Asaf Vivante, Amelie T. van der Ven, Hadas Ityel, Jing Chen, Carolin E. Sadowski, Stefan Kohl, Werner L. Pabst, Makiko Nakayama, Michael J.G. Somers, Nancy Rodig, Ghaleb H. Daouk, Michelle A. Baum, Deborah R. Stein, Michael A. Ferguson, Avram Z. Traum, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A. Bakkaloğlu, Dominik Müller, Aytül Noyan, Fatih Özaltın, Melissa A. Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B. Kopp, Nadine Benador, Detlef Böckenhauer, Radovan Bogdanović, Nataša Stajić, Gil Chernin, Robert B. Ettenger, Henry Fehrenbach, Markus J. Kemper, Reyner Loza Munárriz, Ľudmila Podracká, Rainer Büscher, Erkin Serdaroğlu, Velibor Tasić, Shrikant Mane, Richard P. Lifton, Daniela A. Braun, Friedhelm Hildebrandt

    Wydane 2017
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