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Naslov Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract (Article)
Autori Kohl Stefan Hwang Daw-Yang Dworschak Gabriel C Hilger Alina C Saisawat Pawaree Vivante Asaf Stajic Natasa Bogdanovic Radovan M Reutter Heiko M Kehinde Elijah O Tasic Velibor Hildebrandt Friedhelm 
Info JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, (2014), vol. 25 br. 9, str. 1917-1922
Projekat National Institutes of Health [R01-DK045345, R01-DK088767]
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract (Article)
Autori Hwang Daw-Yang Dworschak Gabriel C Kohl Stefan Saisawat Pawaree Vivante Asaf Hilger Alina C Reutter Heiko M Soliman Neveen A Bogdanovic Radovan M Kehinde Elijah O Tasic Velibor Hildebrandt Friedhelm 
Info KIDNEY INTERNATIONAL, (2014), vol. 85 br. 6, str. 1429-1433
Projekat National Institutes of Health [R01-DK088767]; March of Dimes Foundation [6FY11-241]
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association (Article)
Autori Saisawat Pawaree Kohl Stefan Hilger Alina C Hwang Daw-Yang Gee Heon Yung Dworschak Gabriel C Tasic Velibor Pennimpede Tracie Natarajan Sivakumar Sperry Ethan Matassa Danilo S Stajic Natasa Bogdanovic Radovan M de Blaauw Ivo Marcelis Carlo LM Wijers Charlotte HW Bartels Enrika Schmiedeke Eberhard Schmidt Dominik Maerzheuser Stefanie Grasshoff-Derr Sabine Holland-Cunz Stefan Ludwig Michael Noethen Markus M Draaken Markus Brosens Erwin Heij Hugo Tibboel Dick Herrmann Bernhard G Solomon Benjamin D de Klein Annelies van Rooij Iris ALM Esposito Franca Reutter Heiko M Hildebrandt Friedhelm 
Info KIDNEY INTERNATIONAL, (2014), vol. 85 br. 6, str. 1310-1317
Projekat National Institutes of Health [R01-DK045345, R01-DK088767]; March of Dimes Foundation [6FY11-241]; Division of Intramural Research; National Human Genome Research Institute (NHGRI); National Institutes of Health and Human services; Bundesministerium fur B
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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