Alexandrè Serra

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Hirschsprung disease (HSCR) is transmitted in a complex pattern of inheritance and is mostly associated with variants in the RET proto-oncogene. However, RET mutations are only identified in 15-20%(More)
INTRODUCTION We aimed to critically evaluate elective preterm delivery and immediate abdominal wall closure and other techniques for the management of gastroschisis, hypothesizing that the advantages(More)
Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS(More)