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Brain Research Bulletin|March 6, 2025
The prevalence of Charles-Bonnet syndrome in ophthalmic patients: A systematic review and meta-analysisSophia E G Christoph, Karl T Boden, Rudolf Siegel, et al.
JIMD Reports|September 10, 2019
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patientLars Schlotawa, Thomas Dierks, Sophie Christoph, et al.
Molecular Therapy. Nucleic Acids|September 15, 2025
Molecular treatment options for patients carrying KIAA0586/TALPID3 variantsJacqueline E Taudien, Sebastian Swirski, Maike Möller, et al.
International Ophthalmology|September 10, 2024
Epidemiology and phenomenology of the Charles Bonnet syndrome in low-vision patientsSophia E G Christoph, Karl T Boden, Annette Pütz, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 1, 1981
Steric control of CO binding in a totally synthetic heme protein modelD H Busch, L L Zimmer, J J Grzybowski, et al.
Molecular Genetics and Metabolism|May 18, 2005
Neonatal screening for defects of the mitochondrial trifunctional proteinJohannes Sander, Stefanie Sander, Ulrike Steuerwald, et al.
Journal of Human Genetics|July 2, 2021
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defectsFenja Markus, Annika Kannengießer, Patricia Näder, et al.
Journal of Medicinal Chemistry|July 1, 1983
Optically active catecholimidazolines: a study of steric interactions at alpha-adrenoreceptorsD D Miller, A Hamada, E C Craig, et al.
Parkinsonism & Related Disorders|April 9, 2020
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndromeMilan Zimmermann, Stefanie Schuster, Sylvia Boesch, et al.
Journal of Inherited Metabolic Disease|May 27, 2008
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary noteM C de Vries, R J Rodenburg, E Morava, et al.
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