New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Por Basel-Vanagaite, Lina, Sprecher, Eli, Gat, Andrea, Merlob, Paul, Albin-Kaplanski, Adi, Konen, Osnat, Solomon, Benjamin D., Muenke, Maximilian, Grzeschik, Karl H., Sirota, Lea
Publicado em 2011

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Por Basel-Vanagaite, Lina, Zevit, Noam, Zahav, Adi Har, Guo, Liang, Parathath, Saj, Pasmanik-Chor, Metsada, McIntyre, Adam D., Wang, Jian, Albin-Kaplanski, Adi, Hartman, Corina, Marom, Daphna, Zeharia, Avraham, Badir, Abir, Shoerman, Oded, Simon, Amos J., Rechavi, Gideon, Shohat, Mordechai, Hegele, Robert A., Fisher, Edward A., Shamir, Raanan
Publicado em 2012