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B Wortmann

Showing results (71-80 of 205) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2021
Response to Biesecker et alJoseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, et al.
EMBO Molecular Medicine|September 1, 2021
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorderRené G Feichtinger, Andreas Hüllen, Andreas Koller, et al.
Acta Paediatrica (Oslo, Norway : 1992)|July 11, 2006
Refractory severe intestinal vasculitis due to Henoch-Schönlein purpura: successful treatment with plasmapheresisSaskia B Wortmann, Theo J W Fiselier, Nicole C A J Van De Kar, et al.
American Journal of Medical Genetics. Part A|October 19, 2010
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi traffickingBeate Albrecht, Arjan P de Brouwer, Dirk J Lefeber, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|April 28, 2009
Irradiation facility at the TRIGA Mainz for treatment of liver metastasesG Hampel, B Wortmann, M Blaickner, et al.
Frontiers in Neurology|January 30, 2023
A case report: New-onset refractory status epilepticus in a patient with <i>FASTKD2</i>-related mitochondrial diseaseAlexandra Astner-Rohracher, Matthias Mauritz, Markus Leitinger, et al.
Diagnostics (Basel, Switzerland)|August 28, 2020
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in NewbornsTomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, et al.
The Journal of Biological Chemistry|July 25, 2003
Long term association of the cytokine receptor gp130 and the Janus kinase Jak1 revealed by FRAP analysisBernd Giese, Chi-King Au-Yeung, Andreas Herrmann, et al.
Pageof 21

Showing results (71-80 of 205) with videos related to

Sort By:
Pageof 21
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2021
Response to Biesecker et alJoseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, et al.
EMBO Molecular Medicine|September 1, 2021
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorderRené G Feichtinger, Andreas Hüllen, Andreas Koller, et al.
Acta Paediatrica (Oslo, Norway : 1992)|July 11, 2006
Refractory severe intestinal vasculitis due to Henoch-Schönlein purpura: successful treatment with plasmapheresisSaskia B Wortmann, Theo J W Fiselier, Nicole C A J Van De Kar, et al.
American Journal of Medical Genetics. Part A|October 19, 2010
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi traffickingBeate Albrecht, Arjan P de Brouwer, Dirk J Lefeber, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|April 28, 2009
Irradiation facility at the TRIGA Mainz for treatment of liver metastasesG Hampel, B Wortmann, M Blaickner, et al.
Frontiers in Neurology|January 30, 2023
A case report: New-onset refractory status epilepticus in a patient with <i>FASTKD2</i>-related mitochondrial diseaseAlexandra Astner-Rohracher, Matthias Mauritz, Markus Leitinger, et al.
Diagnostics (Basel, Switzerland)|August 28, 2020
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in NewbornsTomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, et al.
The Journal of Biological Chemistry|July 25, 2003
Long term association of the cytokine receptor gp130 and the Janus kinase Jak1 revealed by FRAP analysisBernd Giese, Chi-King Au-Yeung, Andreas Herrmann, et al.
Pageof 21