Výsledky vyhledávání - Gabriel C. Dworschak

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  1. 1
    Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease

    Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease Autor Roslyn Simms, Kah Mean Thong, Gabriel C. Dworschak, Albert Ong

    Vydáno 2015
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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 Autor Asaf Vivante, Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Friedhelm Hildebrandt

    Vydáno 2014
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  3. 3
    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 Autor 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

    Vydáno 2014
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  4. 4
    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 Autor 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

    Vydáno 2014
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  5. 5
    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 Autor 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

    Vydáno 2015
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  6. 6
    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 Autor 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

    Vydáno 2015
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  7. 7
    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 Autor 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

    Vydáno 2013
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  8. 8
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Autor Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    Vydáno 2020
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