Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

le Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair
Foilsithe in Mol Genet Metab Rep (2020)

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

le Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair
Foilsithe in BMC Med Genet (2019)

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

le Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Foilsithe in Am J Hum Genet (2016)