A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

Por Mory, Adi, Ruiz, Francesc X, Dagan, Efrat, Yakovtseva, Evgenia A, Kurolap, Alina, Parés, Xavier, Farrés, Jaume, Gershoni-Baruch, Ruth
Publicado em 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Por Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
Publicado em 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Por Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
Publicado em 2014

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

Por Mory, Adi, Dagan, Efrat, Illi, Barbara, Duquesnoy, Philippe, Mordechai, Shikma, Shahor, Ishai, Romani, Sveva, Hawash-Moustafa, Nivin, Mandel, Hanna, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth
Publicado em 2012

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

Por Kurolap, Alina, Armbruster, Anja, Hershkovitz, Tova, Hauf, Katharina, Mory, Adi, Paperna, Tamar, Hannappel, Ewald, Tal, Galit, Nijem, Yusif, Sella, Ella, Mahajnah, Muhammad, Ilivitzki, Anat, Hershkovitz, Dov, Ekhilevitch, Nina, Mandel, Hanna, Eulenburg, Volker, Baris, Hagit N.
Publicado no Am J Hum Genet (2016)

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

Por Lopez-Herrera, Gabriela, Tampella, Giacomo, Pan-Hammarström, Qiang, Herholz, Peer, Trujillo-Vargas, Claudia M., Phadwal, Kanchan, Simon, Anna Katharina, Moutschen, Michel, Etzioni, Amos, Mory, Adi, Srugo, Izhak, Melamed, Doron, Hultenby, Kjell, Liu, Chonghai, Baronio, Manuela, Vitali, Massimiliano, Philippet, Pierre, Dideberg, Vinciane, Aghamohammadi, Asghar, Rezaei, Nima, Enright, Victoria, Du, Likun, Salzer, Ulrich, Eibel, Hermann, Pfeifer, Dietmar, Veelken, Hendrik, Stauss, Hans, Lougaris, Vassilios, Plebani, Alessandro, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Grimbacher, Bodo
Publicado em 2012