-
1دورية أكاديمية
المؤلفون: Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: ACMG, Carrier screening, Community data-driven approach, Genomics, Pan-ethnic, Pathogenic founder variants, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
-
2دورية أكاديمية
المؤلفون: Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100828- (2023)
مصطلحات موضوعية: Autism, Clinical management, Consanguinity, Exome sequencing, Global developmental delay, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nóra Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltán Prohászka, Daniella Magen
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: atypical hemolytic uremic syndrome (aHUS), complement factor C3, eculizumab, alternative complement pathway, homozygous deletion, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100699- (2021)
مصطلحات موضوعية: NFS1, Iron‑sulfur clusters, Mitochondrial disease, Intra-familial variability, Hot-spot variant, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
6دورية أكاديمية
المؤلفون: Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
المصدر: PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 16, p 5857 (2020)
مصطلحات موضوعية: congenital adrenal hyperplasia, CYP21A2, in silico, protein structure, VUS, consurf, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris
المصدر: Rambam Maimonides Medical Journal, Vol 9, Iss 3, p e0018 (2018)
مصطلحات موضوعية: Consanguinity, personalized medicine, rare genetic disease, whole-exome sequencing, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
-
9
المؤلفون: Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Roee Birnbaum, Hagit Baris Feldman, Yuval Yaron
المصدر: Prenatal Diagnosis. 42:1484-1487
مصطلحات موضوعية: Information Dissemination, Mutation, Obstetrics and Gynecology, Exons, RNA Splice Sites, Introns, Genetics (clinical)
-
10
المؤلفون: Penina, Ponger, Alina, Kurolap, Israela, Lerer, Judith, Dagan, Chofit, Chai Gadot, Adi, Mory, Yael, Wilnai, Nino, Oniashvili, Nir, Giladi, Tanya, Gurevich, Vardiella, Meiner, Alexander, Lossos, Hagit, Baris Feldman
المصدر: Journal of Molecular Neuroscience. 72:1715-1723
مصطلحات موضوعية: Adolescent, Apraxias, Mitomycin, DNA Helicases, Exons, General Medicine, Multifunctional Enzymes, Poisons, Cellular and Molecular Neuroscience, Codon, Nonsense, Mutation, Humans, Spinocerebellar Ataxias, Israel, RNA Helicases