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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.Blood Advances|October 7, 2022
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicityKerstin Schütze, Miriam Groß, Kerstin Cornils, et al.European Journal of Pediatrics|December 18, 2002
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophyMatthias Baumann, G Christoph Korenke, Almuth Weddige-Diedrichs, et al.Blood|September 15, 1995
A second generation transgenic mouse model expressing both hemoglobin S (HbS) and HbS-Antilles results in increased phenotypic severityM E Fabry, A Sengupta, S M Suzuka, et al.Journal of Medical Genetics|May 3, 2013
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGTMalin Kvarnung, Daniel Nilsson, Anna Lindstrand, et al.Molecular Syndromology|September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous MalformationsStefanie Spiegler, Bettina Kirchmaier, Matthias Rath, et al.Pageof 13