المؤلفون: Heron, Delphine, Keren, Boris, Johnstone, Devon, Mears, Wendy, Morlot, Susanne, Nguyen, Thi, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William, Jones, Julie, Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David, Campeau, Philippe, Castle, Alison, Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin

المصدر: Neurology: Genetics. 7(6)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5hr2n2tv

المؤلفون: Birk‐Bachar, Merav, Cohen, Hadar, Sofrin‐Drucker, Efrat, Kropach‐Gilad, Nesia, Orenstein, Naama, Lidzbarsky, Gabriel, Kornreich, Liora, Tal, Rotem, Amarilyo, Gil, Levinsky, Yoel, Sokolov, Meirav, Raveh, Eyal, Gerlic, Motti, Harel, Liora

المساهمون: Israel Science Foundation, United States-Israel Binational Science Foundation

المصدر: Arthritis & Rheumatology ; volume 76, issue 3, page 444-454 ; ISSN 2326-5191 2326-5205

الاتاحة: http://dx.doi.org/10.1002/art.42721

المؤلفون: Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz

المصدر: Kidney International ; volume 105, issue 4, page 844-864 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2023.11.032
https://api.elsevier.com/content/article/PII:S0085253823009171?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253823009171?httpAccept=text/plain

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

المؤلفون: Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, van Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza

المساهمون: Medical Research Council, Wellcome Trust

المصدر: Annals of Clinical and Translational Neurology ; volume 9, issue 7, page 1080-1089 ; ISSN 2328-9503 2328-9503

الاتاحة: https://doi.org/10.1002/acn3.51602
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51602
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51602

المؤلفون: Abu Shtaya, Aasem, Orenstein, Naama, Bazak, Lily, Lidzbarsky, Gabriel, Kalis, Marina Lifshitc, Amarilyo, Gil, Sofrin-Drucker, Efrat, Jaron, Ranit, Shahar, Noa Ruhrman, Gilad, Nesia Kropach, Basel-Salmon, Lina

المصدر: Pediatric Research ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/s41390-024-03242-z
https://www.nature.com/articles/s41390-024-03242-z.pdf
https://www.nature.com/articles/s41390-024-03242-z

المؤلفون: Castle, Alison, M R, Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin, C, Heron, Delphine, Keren, Boris, Johnstone, Devon, L, Mears, Wendy, Morlot, Susanne, Nguyen, Thi, Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William, Boyce, Jones, Julie, R, Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David, A, Campeau, Philippe, M

المساهمون: Children's Hospital of Eastern Ontario, CHU Sainte Justine Montréal, Tel Aviv University (TAU), University of California (UC), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Medizinische Hochschule Hannover = Hannover Medical School (MHH), BC Children's Hospital Research Institute Vancouver, BC, Canada (BCCHR), University of British Columbia (UBC), The Greenwood Genetic Center, Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), IRCCS Mondino Foundation

المصدر: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.sorbonne-universite.fr/hal-03409007 ; Neurology Genetics, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩

مصطلحات موضوعية: All Genetics, Developmental disorders, [SDV.GEN]Life Sciences [q-bio]/Genetics

الاتاحة: https://hal.sorbonne-universite.fr/hal-03409007
https://hal.sorbonne-universite.fr/hal-03409007v1/document
https://hal.sorbonne-universite.fr/hal-03409007v1/file/e631.full.pdf
https://doi.org/10.1212/NXG.0000000000000631

المؤلفون: Michaelson-Cohen, Rachel, Salzer-Sheelo, Liat, Sukenik-Halevy, Rivka, Koifman, Arie, Fellner, Avi, Reches, Adi, Marom, Daphna, Behar, Doron M., Sofrin-Drucker, Efrat, Zaks-Hoffer, Gal, Weiss-Hubshmann, Monika, Oresntein, Naama, Kropach-Gilad, Nesia, Rhurman-Shahar, Noa, Averbuch, Noa Shefer, Magal, Nurit, Bazak, Lily, Josefberg, Sagi, Matar, Reut, Goldberg, Yael, Shohat, Mordechai, Basel-Salmon, Lina, Maya, Idit

المصدر: Genetics in Medicine ; volume 22, issue 10, page 1703-1709 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0868-4
http://www.nature.com/articles/s41436-020-0868-4.pdf
http://www.nature.com/articles/s41436-020-0868-4
https://api.elsevier.com/content/article/PII:S1098360021007553?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007553?httpAccept=text/plain

المؤلفون: Lebenthal, Yael, Levy, Sigal, Sofrin-Drucker, Efrat, Nagelberg, Nessia, Weintrob, Naomi, Shalitin, Shlomit, de Vries, Liat, Tenenbaum, Ariel, Phillip, Moshe, Lazar, Liora

المصدر: Frontiers in Endocrinology ; volume 9 ; ISSN 1664-2392

الاتاحة: http://dx.doi.org/10.3389/fendo.2018.00027
http://journal.frontiersin.org/article/10.3389/fendo.2018.00027/full

المؤلفون: Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio T.A., Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik‐Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial‐Farran, Nada, Abu‐Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnthórsson, Asgeir Ö., Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samra, Nadra, Zvi, Na'ama, Baris‐Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali‐Naffaa, Doaa, Ruhrman‐Shahar, Noa, Madgar, Ory, Sofrin‐Drucker, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel‐Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien N., Allon‐Shalev, Stavit, King, Mary‐Claire, Avraham, Karen B.

المساهمون: Savoy Foundation, University of Washington, Israel Science Foundation

المصدر: Clinical Genetics ; volume 98, issue 4, page 353-364 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13817
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13817
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13817
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13817

المؤلفون: Sagi-Dain, Lena, Goldberg, Yael, Peleg, Amir, Sukenik-Halevy, Rivka, Sofrin-Drucker, Efrat, Appelman, Zvi, Josefsberg, Ben Yehoshua Sagi, Ben-Shachar, Shay, Vinkler, Chana, Basel-Salmon, Lina, Maya, Idit

المصدر: Human Genetics ; volume 138, issue 10, page 1145-1153 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-019-02048-y
http://link.springer.com/content/pdf/10.1007/s00439-019-02048-y.pdf
http://link.springer.com/article/10.1007/s00439-019-02048-y/fulltext.html