Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

Por Barel, Ortal, Shorer, Zamir, Flusser, Hagit, Ofir, Rivka, Narkis, Ginat, Finer, Gal, Shalev, Hanah, Nasasra, Ahmad, Saada, Ann, Birk, Ohad S.
Publicado em 2008

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

Por Solomon, Oz, Kunik, Vered, Simon, Amos, Kol, Nitzan, Barel, Ortal, Lev, Atar, Amariglio, Ninette, Somech, Raz, Rechavi, Gidi, Eyal, Eran
Publicado no BMC Genomics (2016)

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Por Barel, Ortal, Shalev, Stavit A., Ofir, Rivka, Cohen, Asi, Zlotogora, Joel, Shorer, Zamir, Mazor, Galia, Finer, Gal, Khateeb, Shareef, Zilberberg, Noam, Birk, Ohad S.
Publicado em 2008

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Por Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair
Publicado no Eur J Hum Genet (2016)

Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B

Por Somech, Raz, Lev, Atar, Lee, Yu Nee, Simon, Amos J, Barel, Ortal, Schiby, Ginette, Avivi, Camila, Barshack, Iris, Rhodes, Michele, Yin, Jiejing, Wang, Minshi, Yang, Yibin, Rhodes, Jennifer, Marcus, Nufar, Garty, Ben-Zion, Stein, Jerry, Amariglio, Ninette, Rechavi, Gideon, Wiest, David L., Zhang, Yong
Publicado no J Immunol (2017)

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Por Simon, Amos J., Lev, Atar, Zhang, Yong, Weiss, Batia, Rylova, Anna, Eyal, Eran, Kol, Nitzan, Barel, Ortal, Cesarkas, Keren, Soudack, Michalle, Greenberg-Kushnir, Noa, Rhodes, Michele, Wiest, David L., Schiby, Ginette, Barshack, Iris, Katz, Shulamit, Pras, Elon, Poran, Hana, Reznik-Wolf, Haike, Ribakovsky, Elena, Simon, Carlos, Hazou, Wadi, Sidi, Yechezkel, Lahad, Avishay, Katzir, Hagar, Sagie, Shira, Aqeilan, Haifa A., Glousker, Galina, Amariglio, Ninette, Tzfati, Yehuda, Selig, Sara, Rechavi, Gideon, Somech, Raz
Publicado no J Exp Med (2016)