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  • Pawaree Saisawat, Stefan Kohl, +32 authors Friedhelm Hildebrandt
  • Biology, Medicine
  • Kidney international
  • 2014 (First Publication: 23 October 2013)
  • Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal diseaseContinue Reading
  • Sukanya Horpaopan, Isabel Spier, +25 authors Stefan Aretz
  • Biology, Medicine
  • International journal of cancer
  • 2015 (First Publication: 15 March 2015)
  • To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV)Continue Reading
  • Charlotte Schramm, Markus Draaken, +13 authors M. Ludwig
  • Medicine
  • European Journal of Pediatrics
  • 2010 (First Publication: 1 June 2011)
  • IntroductionAnorectal malformations (ARM) range from mild anal to severe anorectal anomalies. Approximately 50% are estimated to be non-syndromic with multiple familial cases reported that suggestContinue Reading
  • Radovan Bogdanović, Markus Draaken, Alma Toromanović, Maja Đorđević, Nataša Stajić, Michael Ludwig
  • Medicine
  • Pediatric Nephrology
  • 2010 (First Publication: 1 November 2010)
  • Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with aContinue Reading
  • Heiko M Reutter, Simeon A. Boyadjiev, +23 authors Ekkehart Jenetzky
  • Medicine
  • The Journal of pediatrics
  • 2011 (First Publication: 1 November 2011)
  • OBJECTIVE To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). STUDY DESIGN Patients with BEEC from North America (n =Continue Reading