Fremdfinanzierung von Gebrauchsgütern
Das alltägliche Risiko
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Open AccessThe genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a noso...
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Open AccessNosological delineation of congenital ocular motor apraxia type Cogan: an observational study
The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man...
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Open AccessRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causa...
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Zusammenfassung
In der Schlussbetrachtung bleibt festzustellen, dass die Fremdfinanzierung von Gebrauchsgütern sich über die Jahrhunderte durch einen festen Kern und durch einen wandelbaren, den jeweiligen Bedürfnissen des Ma...
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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
Eric Shoubridge and colleagues report the identification of a mutation in the CCDC44 gene that is causal in a Leigh syndrome pedigree. The CCDC44 gene product, TACO1, is involved in mitochondrial translation and ...
