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B Wortmann

Showing results (31-40 of 205) with videos related to

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Journal of Inherited Metabolic Disease|March 5, 2015
Whole exome sequencing of suspected mitochondrial patients in clinical practiceSaskia B Wortmann, David A Koolen, Jan A Smeitink, et al.
JIMD Reports|December 9, 2016
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, et al.
Neuropediatrics|August 14, 2025
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 VariantSabine Ebner, Kajus Merkevicius, Barbara Schnell, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.
Journal of Child Neurology|May 28, 2016
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL SyndromeDorian Blommaert, Karen van Hulst, Frank J A van den Hoogen, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Journal of Cell Science|October 29, 2005
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cellsBernd Giese, Christoph Roderburg, Michael Sommerauer, et al.
Molecular Genetics and Metabolism|December 3, 2025
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunityNatalia Zubarovskaya, Johannes A Mayr, Elmar Aigner, et al.
Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.
Nano Letters|December 10, 2015
Reversible 2D Phase Transition Driven By an Electric Field: Visualization and Control on the Atomic ScaleB Wortmann, D van Vörden, P Graf, et al.
Pageof 21

Showing results (31-40 of 205) with videos related to

Sort By:
Pageof 21
Journal of Inherited Metabolic Disease|March 5, 2015
Whole exome sequencing of suspected mitochondrial patients in clinical practiceSaskia B Wortmann, David A Koolen, Jan A Smeitink, et al.
JIMD Reports|December 9, 2016
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, et al.
Neuropediatrics|August 14, 2025
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 VariantSabine Ebner, Kajus Merkevicius, Barbara Schnell, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.
Journal of Child Neurology|May 28, 2016
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL SyndromeDorian Blommaert, Karen van Hulst, Frank J A van den Hoogen, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Journal of Cell Science|October 29, 2005
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cellsBernd Giese, Christoph Roderburg, Michael Sommerauer, et al.
Molecular Genetics and Metabolism|December 3, 2025
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunityNatalia Zubarovskaya, Johannes A Mayr, Elmar Aigner, et al.
Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.
Nano Letters|December 10, 2015
Reversible 2D Phase Transition Driven By an Electric Field: Visualization and Control on the Atomic ScaleB Wortmann, D van Vörden, P Graf, et al.
Pageof 21