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European Journal of Pediatrics|January 25, 2012
Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutationFlorian Brackmann, Angela Abicht, Uwe Ahting, et al.
Brain & Development|December 2, 2017
Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesisFlorian Brackmann, Roland Coras, Karl Rössler, et al.
Journal of Pediatric Hematology/Oncology|October 9, 2012
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopeniaFlorian Brackmann, Manuela Krumbholz, Thorsten Langer, et al.
Neuropediatrics|February 14, 2017
Rare Variant of GM2 Gangliosidosis through Activator-Protein DeficiencyFlorian Brackmann, Christiane Kehrer, Wibke Kustermann, et al.
Neuromuscular Disorders : NMD|November 25, 2017
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleedingFlorian Brackmann, Matthias Türk, Nils Gratzki, et al.
Brain Research|March 7, 2020
Seizure-induced neuronal apoptosis is related to dysregulation of the RNA-edited GluR2 subunit in the developing mouse brainSusan Jung, Yili E Ballheimer, Florian Brackmann, et al.
Methods and Applications in Fluorescence|November 18, 2017
Ratiometric luminescence 2D in vivo imaging and monitoring of mouse skin oxygenationJulian Hofmann, Robert J Meier, Alexander Mahnke, et al.
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