Christian Thiel

Key features and clinical variability of COG6-CDG.

Gert Matthijs, Uwe Kornak, Hubertus C M T Prinsen, 2015, Molecular genetics and metabolism.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Roland Eils, Stefan Wiemann, Ute Moog, 2017, Molecular genetics and metabolism.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

Erdmann Rapp, Udo Reichl, Samanta Cajic, 2016, Molecular & Cellular Proteomics.

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Nenad Blau, Georg F. Hoffmann, N. Blau, 2018, Molecular genetics and metabolism.