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Article
Open AccessCombining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined...
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Article
Open AccessPersonalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline mosaicism; but for any spec...
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Article
Open AccessUlcer metastasis? Anatomical locations of recurrence for patients in diabetic foot remission
The “cancer analogy” is powerful for communicating risk to and organizing care for patients with diabetic foot syndrome. One potentially underappreciated similarity between cancer and foot ulcers is that both ...
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Article
Home sleep apnea testing: comparison of manual and automated scoring across international sleep centers
To determine the agreement between the manual scoring of home sleep apnea tests (HSATs) by international sleep technologists and automated scoring systems.
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Protocol
Labeling DNA Breaks In Situ by Klenow Enzyme
The Klenow fragment of DNA polymerase I, first described by Klenow and Henningson in 1970 (1), consisted of a 75 kDa proteolytic fragment of the Kornberg polymerase of Escherichia coli. Klenow is now usually obta...
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Chapter
Cerebellar Degenerations
Study of neuronal cell loss now requires an appreciation of the mode of cell death. In neurons, several types of cell death have been described based on the morphology of the dying cell (1) such as necrosis, apop...
