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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. Among authors: von schnakenburg c. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.
Fanconi-Bickel syndrome and fertility.
von Schnakenburg C, Santer R. von Schnakenburg C, et al. Am J Med Genet A. 2011 Oct;155A(10):2607. doi: 10.1002/ajmg.a.34202. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910231 No abstract available.
Effects of closed-loop automatic control of the inspiratory fraction of oxygen (FiO2-C) on outcome of extremely preterm infants - study protocol of a randomized controlled parallel group multicenter trial for safety and efficacy.
Maiwald CA, Niemarkt HJ, Poets CF, Urschitz MS, König J, Hummler H, Bassler D, Engel C, Franz AR; FiO2-C Study Group. Maiwald CA, et al. BMC Pediatr. 2019 Oct 21;19(1):363. doi: 10.1186/s12887-019-1735-9. BMC Pediatr. 2019. PMID: 31630690 Free PMC article.
Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing.
Hennies I, Gimpel C, Gellermann J, Möller K, Mayer B, Dittrich K, Büscher AK, Hansen M, Aulbert W, Wühl E, Nissel R, Schalk G, Weber LT, Pohl M, Wygoda S, Beetz R, Klaus G, Fehrenbach H, König S, Staude H, Beringer O, Bald M, Walden U, von Schnakenburg C, Bertram G, Wallot M, Häffner K, Wiech T, Hoyer PF, Pohl M; German Society of Pediatric Nephrology. Hennies I, et al. Among authors: von schnakenburg c. Pediatr Nephrol. 2018 Feb;33(2):277-286. doi: 10.1007/s00467-017-3794-1. Epub 2017 Oct 5. Pediatr Nephrol. 2018. PMID: 28983704
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope. Cochat P, et al. Nephrol Dial Transplant. 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. Nephrol Dial Transplant. 2012. PMID: 22547750 Free article.
46 results