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Pediatric Transplantation|April 4, 2017
Dyslipidemia after pediatric renal transplantation-The impact of immunosuppressive regimensSandra Habbig, Ruth Volland, Kai Krupka, et al.
Gut|May 22, 2015
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CThomas Müller, Insha Rasool, Peter Heinz-Erian, et al.
The Journal of Pediatrics|April 25, 2003
Evidence for genetic heterogeneity in lymphedema-cholestasis syndromeMartin Frühwirth, Andreas R Janecke, Thomas Müller, et al.
Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.
Journal of the Neurological Sciences|July 31, 2007
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara Rohkamm, Mary M Reilly, Hanns Lochmüller, et al.
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