Συγγραφείς:
Christou, E.
Bourousis, E.
Servos, G.
Xatzipsalti, M.
Kaditis, A.G.
Delis, D.
Vazeou, A.
Λέξεις-κλειδιά:
diuretic agent; furosemide; gluconate calcium; levetiracetam; nitric oxide; parathyroid hormone; phenytoin; proline dehydrogenase; prostacyclin; sildenafil; transcription factor Sox10, 22q11.2 deletion syndrome; agenesis; artery dilatation; artificial ventilation; body weight gain; case report; chromosome deletion 22q11; clinical article; clinical examination; computed tomographic angiography; consciousness disorder; craniofacial malformation; disease severity; drug dose titration; epilepsy; gene; gene mutation; heart atrium septum defect; heart catheterization; hepatomegaly; homozygote; human; hyperprolinemia; hypocalcemia; hypophosphatemia; infant; infant mortality; Letter; lung artery pressure; male; microarray analysis; muscle hypotonia; oxygen therapy; parathyroid hormone blood level; patent ductus arteriosus; pathological reflex; priority journal; prognosis; proline dehydrogenase gene; pulmonary hypertension; pulmonary vascular disease; seizure; SOX10 gene; systolic heart murmur; TBX1 gene; tertiary care center; unilateral pulmonary artery agenesis; vomiting; Waardenburg syndrome; whole exome sequencing