Publications by authors named "Christoph Berning"

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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Katharina Engel, Jean-Marc Vuissoz, Sandra Eggimann, Murielle Groux, Christoph Berning

J Inherit Metab Dis· January 2012

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TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.
Johannes Häberle, Silke Pauli, Christoph Berning, Hans G Koch, Michael Linnebank

J Hum Genet· June 2009

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Investigation of citrullinemia type I variants by in vitro expression studies.
Christoph Berning, Iris Bieger, Silke Pauli, Tim Vermeulen, Thomas Vogl

Hum Mutat· October 2008

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Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Wim J Kleijer, Victor H Garritsen, Marianne L T van der Sterre, Christoph Berning, Johannes Häberle

Prenat Diagn· March 2006

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Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Johannes Häberle, Silke Pauli, Eva Schmidt, Barbara Schulze-Eilfing, Christoph Berning

Mol Genet Metab· November 2003

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