Publication: Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
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Susgun S.
Kesim Y.
Khalilov D.
Sirin N. G.
Gezegen H.
Salman B.
Yucesan E.
Gokcay G.
Korbeyli H. K.
Balci M. C.
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Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., Yucesan E., Gokcay G., Korbeyli H. K., Balci M. C., et al., "Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.", Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023