BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Por Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai
Publicado no Mol Genet Genomic Med (2019)

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

Por 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
Publicado no BMC Med Genet (2019)

A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Por Malicdan, May Christine V., Vilboux, Thierry, Ben-Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode-Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos, Shelestovich, Natalia, Marek-Yagel, Dina, Pri-Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., Anikster, Yair
Publicado no Hum Mutat (2017)