Non-immune Hemolysis in Gaucher Disease and Review of the Literature

著者: Hershkop, Eliyakim, Bergman, Idan, Kurolap, Alina, Dally, Najib, Feldman, Hagit Baris
出版年 Rambam Maimonides Med J (2021)

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

著者: Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
出版年 Rambam Maimonides Med J (2018)

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

著者: Mory, Adi, Ruiz, Francesc X, Dagan, Efrat, Yakovtseva, Evgenia A, Kurolap, Alina, Parés, Xavier, Farrés, Jaume, Gershoni-Baruch, Ruth
出版事項 2014

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

著者: Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
出版事項 2014

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

著者: Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
出版事項 2014

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

著者: Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
出版年 Mol Genet Metab Rep (2020)

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

著者: 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.
出版年 Am J Hum Genet (2016)

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

著者: Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon
出版年 Sci Adv (2021)

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

著者: Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
出版年 Nat Commun (2018)