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1Academic Journal
المؤلفون: Kurolap, Alina, Chai Gadot, Chofit, Eshach Adiv, Orly, Hershkovitz, Tova, Avitan-Hersh, Emily, Martin, Ludovic, Humeau, Helene, Schatz, Ulrich A., Westphal, Dominik S., Lobmaier, Silvia, Sofrin-Drucker, Efrat, Stafler, Patrick, Bugis, Joshua, Chermesh, Irit, Hardak, Emilia, Geva, Polina, Zohar, Yaniv, Hershkovitz, Dov, Mory, Adi, Chatterji, Sumit
المصدر: Annals of Internal Medicine; Jan2025, Vol. 178 Issue 1, p39-49, 12p
مصطلحات موضوعية: REVERSE transcriptase polymerase chain reaction, RNA analysis, ACADEMIC medical centers, GENETIC variation, TERTIARY care
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2Academic Journal
المؤلفون: Hourvitz, Noa, Kurolap, Alina, Mory, Adi, Haratz, Karina Krajden, Kidron, Dvora, Malinger, Gustavo, Baris Feldman, Hagit, Yaron, Yuval
المصدر: Prenatal Diagnosis ; volume 43, issue 10, page 1374-1377 ; ISSN 0197-3851 1097-0223
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3Academic Journal
المؤلفون: Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit
المصدر: Human Genomics ; volume 17, issue 1 ; ISSN 1479-7364
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4Academic Journal
المؤلفون: Nakhleh Francis, Yara, Hershkovitz, Tova, Ekhilevitch, Nina, Habib, Clair, Ravid, Sarit, Tal, Galit, Schertz, Mitchell, Mory, Adi, Zinger, Amihood, Baris Feldman, Hagit, Zaid, Rinat, Paperna, Tamar, Weiss, Karin
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100828 ; ISSN 2949-7744
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5Academic Journal
المؤلفون: Miremberg, Hadas, Birnbaum, Roee, Trigubov, Dorin, Botvinik, Adi, Yaron, Yuval, Mory, Adi, Malinger, Gustavo, Haratz, Karina Krajden
المصدر: Prenatal Diagnosis; Nov2024, Vol. 44 Issue 12, p1518-1521, 4p
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6Academic Journal
المؤلفون: Kurolap, Alina, Mory, Adi, Simchoni, Sharon, Krajden Haratz, Karina, Malinger, Gustavo, Birnbaum, Roee, Baris Feldman, Hagit, Yaron, Yuval
المصدر: Prenatal Diagnosis ; volume 42, issue 12, page 1484-1487 ; ISSN 0197-3851 1097-0223
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7Academic JournaleP345: Community data-driven approach for generating cross-ethnic population carrier screening panel
المؤلفون: Einhorn, Yaron, Einhorn, Moshe, Yaron, Yuval, Steinberg, Dror, Henig, Noa Zunz, Mory, Adi, Bazak, Lily, Tsur, Erez, Weiss, Karin, Paperna, Tamar, Grinshpun-Cohen, Julia, Singer, Amihood, Basel-Salmon, Lina, Feldman, Hagit Baris
المصدر: Genetics in Medicine ; volume 24, issue 3, page S216 ; ISSN 1098-3600
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8Academic Journal
المؤلفون: Barel, Dalit, Marom, Daphna, Ponger, Penina, Kurolap, Alina, Bar-Shira, Anat, Kaplan-Ber, Idit, Mory, Adi, Abramovich, Beatrice, Yaron, Yuval, Drory, Vivian, Baris Feldman, Hagit
المصدر: Journal of Neurology; Jul2024, Vol. 271 Issue 7, p4258-4266, 9p
مصطلحات موضوعية: AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL lobar degeneration, GENETIC disorder diagnosis, ASHKENAZIM, ISRAELIS, NEURODEGENERATION
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9Academic Journal
المؤلفون: Marom, Daphna, Mory, Adi, Reytan-Miron, Sivan, Amir, Yam, Kurolap, Alina, Cohen, Julia Grinshpun, Morhi, Yocheved, Smolkin, Tatiana, Cohen, Lior, Zangen, Shmuel, Shalata, Adel, Riskin, Arieh, Peleg, Amir, Lavie-Nevo, Karen, Mandel, Dror, Chervinsky, Elana, Fisch, Clari Felszer, Fleisher Sheffer, Vered, Falik-Zaccai, Tzipora C., Rips, Jonathan, Shlomai, Noa Ofek, Friedman, Smadar Eventov, Shporen, Calanit Hershkovich, Ben-Yehoshua, Sagie Josefsberg, Simmonds, Aryeh, Yaacobi, Racheli Goldfarb, Bauer-Rusek, Sofia, Omari, Hussam, Weiss, Karin, Hochwald, Ori, Koifman, Arie, Globus, Omer, Batzir, Nurit Assia, Yaron, Naveh, Segel, Reeval, Morag, Iris, Reish, Orit, Eliyahu, Aviva, Leibovitch, Leah, Schwartz, Marina Eskin, Abramsky, Ramy, Hochberg, Amit, Oron, Anat, Banne, Ehud, Portnov, Igor, Samra, Nadra Nasser, Singer, Amihood, Baris Feldman, Hagit
المصدر: JAMA Network Open ; volume 7, issue 2, page e240146 ; ISSN 2574-3805
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10Academic Journal
المؤلفون: Pollack, Shirley, Eisenstein, Israel, Mory, Adi, Paperna, Tamar, Ofir, Ayala, Baris-Feldman, Hagit, Weiss, Karin, Veszeli, Nóra, Csuka, Dorottya, Shemer, Revital, Glaser, Fabian, Prohászka, Zoltán, Magen, Daniella
المصدر: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224
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11Academic Journal
المؤلفون: 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
المصدر: Molecular Genetics and Metabolism Reports ; volume 26, page 100699 ; ISSN 2214-4269
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12Academic Journal
المؤلفون: Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E., Tiosano, Dov
المصدر: Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857
مصطلحات موضوعية: 610 Medicine & health, 570 Life sciences, biology
وصف الملف: application/pdf
Relation: https://boris.unibe.ch/150411/
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13Academic Journal
المؤلفون: Paperna, Tamar, Sharon-Shwartzman, Nitzan, Kurolap, Alina, Goldberg, Yael, Moustafa, Nivin, Carasso, Yariv, Feinstien, Miora, Mory, Adi, Reznick-Levi, Gili, Gonzaga-Jauregui, Claudia, Shuldiner, Alan R, Basel-Salmon, Lina, Ofran, Yishai, Half, Elizabeth E, Baris Feldman, Hagit
مصطلحات موضوعية: Cancer genetics
وصف الملف: text/html
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14Academic Journal
المؤلفون: Tiosano, Dov, Baris, Hagit N, Chen, Anlu, Hitzert, Marrit M, Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G, Rump, Patrick, van Meer, Hester, Sival, Deborah A, Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X, Reis, André, Hauer, Nadine N, Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T, Wiesener, Michael S, Aslanyan, Mariam G, Buchner, David A
المصدر: Tiosano , D , Baris , H N , Chen , A , Hitzert , M M , Schueler , M , Gulluni , F , Wiesener , A , Bergua , A , Mory , A , Copeland , B , Gleeson , J G , Rump , P , van Meer , H , Sival , D A , Haucke , V , Kriwinsky , J , Knaup , K X , Reis , A , Hauer , N N , Hirsch , E , Roepman , R , Pfundt , R , Thiel , C T ....
مصطلحات موضوعية: CONGENITAL MUSCULAR-DYSTROPHY, NUMBER VARIATION DETECTION, CLASS-II PI3K, GENETIC-VARIATION, PRIMARY CILIUM, PROTEIN, LOWE, PI3K-C2-ALPHA, DIAGNOSIS, VARIANTS
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Kurolap, Alina, Barel, Dalit, Shaul Lotan, Nava, Wexler, Isaiah, Chai Gadot, Chofit, Mory, Adi, Barel, Ortal, Almashanu, Shlomo, Baris Feldman, Hagit
المصدر: Molecular Genetics and Metabolism ; volume 140, issue 3, page 107702 ; ISSN 1096-7192
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16Academic Journal
المؤلفون: Zerem, Ayelet, Libzon, Stephanie, Ben Sira, Liat, Meirson, Hadas, Hausman-Kedem, Moran, Haviv, Noam, Yosovich, Keren, Mory, Adi, Baris Feldman, Hagit, Lev, Dorit, Lerman-Sagie, Tally, Fattal-Valevski, Aviva, Hacohen, Yael, Marom, Daphna
المصدر: European Journal of Paediatric Neurology ; volume 45, page 29-35 ; ISSN 1090-3798
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17Academic Journal
المؤلفون: 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, Gonzalez, 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, Fernandez-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia
المصدر: Friederich , M W , Timal , S , Powell , C A , Dallabona , C , Kurolap , A , Palacios-Zambrano , S , Bratkovic , D , Derks , T G J , Bick , D , Bouman , K , Chatfield , K C , Damouny-Naoum , N , Dishop , M K , Falik-Zaccai , T C , Fares , F , Fedida , A , Ferrero , I , Gallagher , R C , Garesse , R , Gilberti , M , Gonzalez , C , Gowan , K , Habib , C ....
مصطلحات موضوعية: TRANSFER-RNA SYNTHETASE, SACCHAROMYCES-CEREVISIAE, GENETIC-VARIATION, LACTIC-ACIDOSIS, HUMAN-DISEASE, IN-VIVO, MUTATIONS, TRANSLATION, ENCEPHALOPATHY, KNOWLEDGEBASE
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Friederich, Marisa W, Timal, Sharita, Powell, Christopher A, Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry GJ, 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 JM, 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 LK
مصطلحات موضوعية: Amino Acid Sequence, Cardiomyopathies, Female, Fibroblasts, Humans, Infant, Newborn, Lentivirus, Male, Mitochondrial Diseases, Models, Molecular, Mutation, Myocardium, Nitrogenous Group Transferases, Oxidative Phosphorylation, Pedigree, Protein Biosynthesis, Protein Subunits, RNA, Transfer, Saccharomyces cerevisiae
وصف الملف: Electronic; application/pdf
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19Academic Journal
المؤلفون: Kurolap, Alina, Eshach-Adiv, Orly, Gonzaga-Jauregui, Claudia, Dolnikov, Katya, Mory, Adi, Paperna, Tamar, Hershkovitz, Tova, Overton, John D, Kaplan, Marielle, Glaser, Fabian, Zohar, Yaniv, Shuldiner, Alan R, Berger, Gidon, Baris, Hagit N
مصطلحات موضوعية: Genotype-phenotype correlations
وصف الملف: text/html
Relation: http://jmg.bmj.com/cgi/content/short/55/11/779; http://dx.doi.org/10.1136/jmedgenet-2018-105299
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20Academic Journal
المؤلفون: Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of General Medical Sciences, National Institutes of Health
المصدر: Human Molecular Genetics ; volume 27, issue 11, page 1913-1926 ; ISSN 0964-6906 1460-2083