An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease by Francesco Leo, Luca Barchi, Giulia Russo, Eleonora Balestri, Elena Chesi, Francesco Di Dio, Livia Garavelli, Lorenzo Iughetti, Giancarlo Gargano

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Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. by Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Francesca Fusco, Giovanni D'Antuono, Chiara Gelmini, Livia Garavelli, Matilde Valeria Ursini

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. by Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

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