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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis by Kožich, Viktor (Author) , Sokolová, Jitka (Author) , Morris, Andrew A. M. (Author) , Pavlíková, Markéta (Author) , Gleich, Florian (Author) , Kölker, Stefan (Author) , Krijt, Jakub (Author) , Dionisi-Vici, Carlo (Author) , Baumgartner, Matthias R. (Author) , Blom, Henk J. (Author) , Huemer, Martina (Author) ,

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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations by Rech, Megan E. (Author) , Schaaf, Christian P. (Author) ,

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A Mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures by Gennarino, Vincenzo A. (Author) , Moog, Ute (Author) ,

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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum by Reuter, Miriam (Author) , Moog, Ute (Author) ,

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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy by Evers, Christina (Author) , Kaufmann, Lilian (Author) , Seitz, Angelika (Author) , Paramasivam, Nagarajan (Author) , Granzow, Martin (Author) , Karch, Stephanie (Author) , Fischer, Christine (Author) , Hinderhofer, Katrin (Author) , Gdynia, Georg (Author) , Elsässer, Michael (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author) ,

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