2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairmentFunnell, A. P. W.; Prontera, P.; Ottaviani, V.; Piccione, M.; Giambona, A.; Maggio, A.; Ciaffoni, F.; Stehling-Sun, S.; Marra, M.; Masiello, F.; Varricchio, L.; Stamatoyannopoulos, J. A.; Migliaccio, A. R.; Papayannopoulou, T. · Blood · 2015

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugénie; Danaila, Teodor; Jacquette, Aurélia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frédéric; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E.; Bassett, Anne S. · Neurology · 2018

Succinate-CoA ligase deficiency due to mutations inSUCLA2andSUCLG1: phenotype and genotype correlations in 71 patientsCarrozzo, Rosalba; Verrigni, Daniela; Rasmussen, Magnhild; de Coo, Rene; Amartino, Hernan; Bianchi, Marzia; Buhas, Daniela; Mesli, Samir; Naess, Karin; Born, Alfred Peter; Woldseth, Berit; Prontera, Paolo; Batbayli, Mustafa; Ravn, Kirstine; Joensen, Fróði; Cordelli, Duccio M.; Santorelli, Filippo Maria; Tulinius, Mar; Darin, Niklas; Duno, Morten; Jouvencel, Philippe; Burlina, Alberto; Stangoni, Gabriela; Bertini, Enrico; Redonnet-Vernhet, Isabelle; Wibrand, Flemming; Dionisi-Vici, Carlo; Uusimaa, Johanna; Vieira, Paivi; Osorio, Andrés Nascimento; McFarland, Robert; Taylor, Robert W.; Holme, Elisabeth; Ostergaard, Elsebet · Journal of Inherited Metabolic Disease · 2016

CorrectionArchives of Disease in Childhood - Fetal and Neonatal Edition · 2013

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Neonatal sepsis: an international perspectiveVergnano, S · Archives of Disease in Childhood - Fetal and Neonatal Edition · 2005

Neonatal meningitisHeath, P T · Archives of Disease in Childhood - Fetal and Neonatal Edition · 2003

Neonatology and obstetric anaesthesiaWard Platt, M. P. · Archives of Disease in Childhood - Fetal and Neonatal Edition · 2014

Which inotrope for which baby?Evans, N · Archives of Disease in Childhood - Fetal and Neonatal Edition · 2005

Neurology of the newbornRennie, J. M · Archives of Disease in Childhood - Fetal and Neonatal Edition · 1995