Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

por Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Publicado 2016

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

por Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen
Publicado 2019

Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation

por NaserEddin, Adeeb, Dinur-Schejter, Yael, Shadur, Bella, Zaidman, Irina, Even-Or, Ehud, Averbuch, Diana, Shamriz, Oded, Tal, Yuval, Shaag, Avraham, Warnatz, Klaus, Elpeleg, Orly, Stepensky, Polina
Publicado 2020

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

por Edvardson, Simon, Cinnamon, Yuval, Ta-Shma, Asaf, Shaag, Avraham, Yim, Yang-In, Zenvirt, Shamir, Jalas, Chaim, Lesage, Suzanne, Brice, Alexis, Taraboulos, Albert, Kaestner, Klaus H., Greene, Lois E., Elpeleg, Orly
Publicado 2012

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

por Keller, Baerbel, Zaidman, Irina, Yousefi, O. Sascha, Hershkovitz, Dov, Stein, Jerry, Unger, Susanne, Schachtrup, Kristina, Sigvardsson, Mikael, Kuperman, Amir A., Shaag, Avraham, Schamel, Wolfgang W., Elpeleg, Orly, Warnatz, Klaus, Stepensky, Polina
Publicado 2016

Correction: Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

por Keller, Baerbel, Zaidman, Irina, Yousefi, O. Sascha, Hershkovitz, Dov, Stein, Jerry, Unger, Susanne, Schachtrup, Kristina, Sigvardsson, Mikael, Kuperman, Amir A., Shaag, Avraham, Schamel, Wolfgang W., Elpeleg, Orly, Warnatz, Klaus, Stepensky, Polina
Publicado 2017

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

por Spiegel, Ronen, Saada, Ann, Flannery, Padraig J, Burté, Florence, Soiferman, Devorah, Khayat, Morad, Eisner, Verónica, Vladovski, Eugene, Taylor, Robert W, Bindoff, Laurence A, Shaag, Avraham, Mandel, Hanna, Schuler-Furman, Ora, Shalev, Stavit A, Elpeleg, Orly, Yu-Wai-Man, Patrick
Publicado 2016

Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within Israel

por Miller, Danielle, Martin, Michael A., Harel, Noam, Tirosh, Omer, Kustin, Talia, Meir, Moran, Sorek, Nadav, Gefen-Halevi, Shiraz, Amit, Sharon, Vorontsov, Olesya, Shaag, Avraham, Wolf, Dana, Peretz, Avi, Shemer-Avni, Yonat, Roif-Kaminsky, Diana, Kopelman, Naama M., Huppert, Amit, Koelle, Katia, Stern, Adi
Publicado 2020

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

por Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T., Breuer, Oded, Shaag, Avraham, Rein, Azaria J. J. T., Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Publicado 2018