Clinical and Imaging Resolution of Neonatal Hemochromatosis following Treatment

Por Machtei, Ayelet, Klinger, Gil, Shapiro, Rivka, Konen, Osnat, Sirota, Lea
Publicado em 2014

Thick Corpus Callosum in Children

Por Schupper, Aviv, Konen, Osnat, Halevy, Ayelet, Cohen, Rony, Aharoni, Sharon, Shuper, Avinoam
Publicado no J Clin Neurol (2017)

LG-20 CAUTION IN THE USE OF BRAF INHIBITORS IN CHILDHOOD BRAIN TUMORS WITH BRAF V600E MUTATION

Por Toledano, Helen, Michaeli, Orli, Goldenberg-Cohen, Nitza, Konen, Osnat, Yaniv, Isaac, Michowiz, Shalom
Publicado no Neuro Oncol (2016)

The accuracy of cardiac MRI in differentiating between intra cardiac tumors and thrombi

Por Goitein, Orly, Slonimasky, Einat, Hamdan, Ashraf, Salem, Yishay, Di Segni, Elio, Konen, Osnat, Konen, Eli
Publicado no J Cardiovasc Magn Reson (2015)

Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction

Por Samuk, Inbal, Levitt, Marc, Dlugy, Elena, Kravarusic, Dragan, Ben-Meir, David, Rajz, Gustavo, Konen, Osnat, Freud, Enrique
Publicado no European J Pediatr Surg Rep (2015)

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

Por Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Publicado no Eur J Hum Genet (2016)

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

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Por Kaufmann, Rami, Straussberg, Rachel, Mandel, Hanna, Fattal-Valevski, Aviva, Ben-Zeev, Bruria, Naamati, Adi, Shaag, Avraham, Zenvirt, Shamir, Konen, Osnat, Mimouni-Bloch, Aviva, Dobyns, William B., Edvardson, Simon, Pines, Ophry, Elpeleg, Orly
Publicado em 2010

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Por Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina
Publicado em 2012

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Por Basel-Vanagaite, Lina, Dallapiccola, Bruno, Ramirez-Solis, Ramiro, Segref, Alexandra, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miró, Xavier, White, Jacqueline K., Désir, Julie, Abramowicz, Marc, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine, Ingham, Neil J., Altmüller, Janine, Nürnberg, Gudrun, Frommolt, Peter, Abdelhak, Sonia, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nürnberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten, Kubisch, Christian, Adams, David J., Borck, Guntram
Publicado em 2012