WHOLE GENOME SEQUENCING REVEALS A FRAMESHIFT MUTATION AND A LARGE DELETION IN YY1AP1 IN A GIRL WITH A PANVASCULAR ARTERY DISEASE

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

Abstract Background Rare diseases are pathologies that affect less than 1 in 2000 people.They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms.Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in general children or young people.The advent

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Relationships between electron density, height and sub-peak ionospheric thickness in the night equatorial ionosphere

The development and decay of the southern equatorial anomaly night-time peak in Transport Chairs electron density as seen at a number of ionosonde reflection points extending from New Guinea and Indonesia into northern Australia was examined in terms of the characteristic rise and fall in height associated with the sunset ionisation-drift vortex at

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