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Stem Cell Research|May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism|July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiencyHeiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Metabolites|February 25, 2023
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric AciduriaElaine Zaunseder, Ulrike Mütze, Sven F Garbade, et al.
Stem Cell Research|August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
BMC Medical Education|November 28, 2024
A novel blended and interprofessional approach to pediatric emergency training: self-assessment, perception, and perceived long-term effectsRonny Lehmann, Michaela Klinke Petrowsky, Anke Seitz, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 7, 2010
Expression and function of matrix Gla protein in human peritoneal mesothelial cellsYihui Zhai, Ling Chen, Meike Hömme, et al.
Pediatric Research|December 1, 1992
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detectionN Blau, C W Heizmann, W Sperl, et al.
Plos One|December 14, 2012
Drug cocktail optimization in chemotherapy of cancerSaskia Preissner, Mathias Dunkel, Michael F Hoffmann, et al.
Spinal Cord|September 17, 2014
Effects of intrathecal triamincinolone-acetonide treatment in MS patients with therapy-resistant spasticityF Kamin, P S Rommer, M Abu-Mugheisib, et al.
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