99 PelletierR.HigginsJ.BourbonnaisD
Lucie, Wellington, and Palm Beach Gardens
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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
The biopsy region healed normally and no new intervention was necessary
Far-UV CD was performed on a Chirascan CD spectrometer (Applied Photophysics Ltd., Leatherhead, UK) between 200 and 260 nm by using a 1-mm path length cell at 293 K