المؤلفون: Hogan, Abigail, Hunter, Jessica, Jin, Peng, Jiraanont, Poonnada, Klusek, Jessica, Kooy, R, Kraan, Claudine, Laterza, Cecilia, Lee, Andrea, Lipworth, Karen, Losh, Molly, Loesch, Danuta, Lozano, Reymundo, Mailick, Marsha, Manolopoulos, Apostolos, Protic, Dragana, Allen, Emily, Archibald, Alison, Baud, Anna, Brown, Ted, Budimirovic, Dejan, Cohen, Jonathan, Dufour, Brett, Eiges, Rachel, Elvassore, Nicola, Gabis, Lidia, Grudzien, Samantha, Hall, Deborah, McLennan, Yingratana, Miller, Robert, Montanaro, Federica, Mosconi, Matthew, Potter, Sarah, Raspa, Melissa, Shelly, Katharine, Todd, Peter, Tutak, Katarzyna, Wheeler, Anne, Winarni, Tri, Zafarullah, Marwa, Rivera, Susan, Hagerman, Randi, Hessl, David, Martinez-Cerdeno, Veronica, Tassone, Flora, Wang, Jun

المصدر: Cells. 12(18)

مصطلحات موضوعية: FMR1 molecular and clinical, FMR1 premutation, FXAND, FXPAC, FXPOI, FXTAS

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4729245w
https://escholarship.org/content/qt4729245w/qt4729245w.pdf

المؤلفون: Engal, Eden, Sharma, Aveksha, Aviel, Uria, Taqatqa, Nadeen, Juster, Sarah, Jaffe-Herman, Shiri, Bentata, Mercedes, Geminder, Ophir, Gershon, Adi, Lewis, Reyut, Kay, Gillian, Hecht, Merav, Epsztejn-Litman, Silvina, Gotkine, Marc, Mouly, Vincent, Eiges, Rachel, Salton, Maayan, Drier, Yotam

المساهمون: The Hebrew University of Jerusalem (HUJ), Shaare Zedek Medical Center Jerusalem, Israel, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.science/hal-04603956 ; Science Advances , 2024, 10 (22), pp.eadn7732. ⟨10.1126/sciadv.adn7732⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38809976; hal-04603956; https://hal.science/hal-04603956; https://hal.science/hal-04603956/document; https://hal.science/hal-04603956/file/sciadv.adn7732.pdf; PUBMED: 38809976; PUBMEDCENTRAL: PMC11135424

الاتاحة: https://hal.science/hal-04603956
https://hal.science/hal-04603956/document
https://hal.science/hal-04603956/file/sciadv.adn7732.pdf
https://doi.org/10.1126/sciadv.adn7732

المؤلفون: Naama, Moriyah, Rahamim, Moran, Zayat, Valery, Sebban, Shulamit, Radwan, Ahmed, Orzech, Dana, Lasry, Rachel, Ifrah, Annael, Jaber, Mohammad, Sabag, Ofra, Yassen, Hazar, Khatib, Areej, Epsztejn-Litman, Silvina, Novoselsky-Persky, Michal, Makedonski, Kirill, Deri, Noy, Goldman-Wohl, Debra, Cedar, Howard, Yagel, Simcha, Eiges, Rachel, Buganim, Yosef

المساهمون: Howard Hughes Medical Institute

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-39104-1
https://www.nature.com/articles/s41467-023-39104-1.pdf
https://www.nature.com/articles/s41467-023-39104-1

المؤلفون: Handal, Tayma, Juster, Sarah, Abu Diab, Manar, Yanovsky-Dagan, Shira, Zahdeh, Fouad, Aviel, Uria, Broek, W.J.A.A. van den, Wansink, D.G., Epsztejn-Litman, Silvina, Eiges, Rachel

المصدر: Nature Communications, 15, 1

مصطلحات الفهرس: Medical Biosciences - Radboud University Medical Center, Article / Letter to editor

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/307330/307330.pdf
https://repository.ubn.ru.nl/handle/2066/307330

المؤلفون: Yanovsky-Dagan, Shira, Cohen, Eliora, Megalli, Pauline, Altarescu, Gheona, Schonberger, Oshrat, Eldar-Geva, Talia, Epsztejn-Litman, Silvina, Eiges, Rachel

المساهمون: The Hebrew University Hadassah Medical School, Shaare Zedek Medical Center Jerusalem, Israel, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34776509; hal-03449010; https://hal.sorbonne-universite.fr/hal-03449010; https://hal.sorbonne-universite.fr/hal-03449010/document; https://hal.sorbonne-universite.fr/hal-03449010/file/s41431-021-00999-3.pdf; PUBMED: 34776509

الاتاحة: https://hal.sorbonne-universite.fr/hal-03449010
https://hal.sorbonne-universite.fr/hal-03449010/document
https://hal.sorbonne-universite.fr/hal-03449010/file/s41431-021-00999-3.pdf
https://doi.org/10.1038/s41431-021-00999-3

المؤلفون: Eldar‐Geva, Talia, Gross‐Tsur, Varda, Hirsch, Harry J., Altarescu, Gheona, Segal, Reeval, Zeligson, Sharon, Golomb, Eliahu, Epsztejn‐Litman, Silvina, Eiges, Rachel

المساهمون: Fondation Jérôme Lejeune, Hebrew University of Jerusalem

المصدر: Molecular Genetics & Genomic Medicine ; volume 6, issue 5, page 811-818 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.448
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.448
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.448

المؤلفون: Mor-Shaked, Hagar, Eiges, Rachel

المساهمون: Israel Science Foundation

المصدر: Frontiers in Molecular Neuroscience ; volume 11 ; ISSN 1662-5099

الاتاحة: http://dx.doi.org/10.3389/fnmol.2018.00031
http://journal.frontiersin.org/article/10.3389/fnmol.2018.00031/full

المؤلفون: Tassone, Flora, Protic, Dragana, Allen, Emily Graves, Archibald, Alison D., Baud, Anna, Brown, Ted W., Budimirovic, Dejan B., Cohen, Jonathan, Dufour, Brett, Eiges, Rachel, Elvassore, Nicola, Gabis, Lidia V., Grudzien, Samantha J., Hall, Deborah A., Hessl, David, Hogan, Abigail, Hunter, Jessica Ezzell, Jin, Peng, Jiraanont, Poonnada, Klusek, Jessica

المصدر: Cells (2073-4409); Sep2023, Vol. 12 Issue 18, p2330, 69p

مصطلحات موضوعية: TRINUCLEOTIDE repeats, CONFERENCES & conventions, GENETIC counseling, NEUROBEHAVIORAL disorders, PHENOTYPES

مصطلحات جغرافية: NEW Zealand

المؤلفون: Allegrucci, Cinzia, Argyriou, Amerikos, Caron, Jérôme, Cheung, Hoi-Hung, Chulpanova, Daria S., Csobonyeiová, M., Dubart-Kupperschmitt, Anne, Eiges, Rachel, Ge, Jingping, Guan, Kaomei, Hämäläinen, Riikka H., Handal, Tayma, Kitaeva, Kristina V., Luo, Jiesi, Modi, Shalem R., Mullagulova, Aysilu I., Murphy, George P., Newman, Katie, Olofsen, Patricia A., Poetsch, Mareike S., Rennert, Owen M., Rizvanov, Albert A., Rojnuckarin, Ponlapat, Shaimardanova, Alisa A., Solovyeva, Valeriya V., Steinberg, Martin H., Touw, Ivo P., Vanuytsel, Kim, Wang, Tao, Weber, Anne

المصدر: Recent Advances in iPSC Disease Modeling, Volume 1 ; page xv-xvii

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-822227-0.01002-4
https://api.elsevier.com/content/article/PII:B9780128222270010024?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128222270010024?httpAccept=text/plain

المؤلفون: Epsztejn-Litman, Silvina, Cohen-Hadad, Yaara, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Levy-Lahad, Ephrat, Schonberger, Oshrat, Eldar-Geva, Talia, Zeligson, Sharon, Eiges, Rachel

المساهمون: Wutz, Anton

المصدر: PLOS ONE ; volume 10, issue 10, page e0138893 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0138893
http://dx.plos.org/10.1371/journal.pone.0138893

المؤلفون: Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel

المصدر: Stem Cell Reports ; volume 5, issue 2, page 221-231 ; ISSN 2213-6711

الاتاحة: http://dx.doi.org/10.1016/j.stemcr.2015.06.003
https://api.elsevier.com/content/article/PII:S2213671115001848?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2213671115001848?httpAccept=text/plain

المؤلفون: Eiges, Rachel, Reubinoff, Benjamin

المصدر: Textbook of Assisted Reproductive Technologies ; page 827-841 ; ISBN 9780415448949 9780203092934

الاتاحة: http://dx.doi.org/10.3109/9780203092934-63
http://www.crcnetbase.com/doi/pdf/10.3109/9780203092934-63

المؤلفون: Handal, Tayma, Eiges, Rachel

المصدر: Recent Advances in iPSC Disease Modeling, Volume 1 ; page 161-186

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-822227-0.00008-9
https://api.elsevier.com/content/article/PII:B9780128222270000089?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128222270000089?httpAccept=text/plain

المؤلفون: Gotkine, Marc, de Majo, Martina, Wong, Chun Hao, Topp, Simon D., Michaelson-Cohen, Rachel, Epsztejn-Litman, Silvina, Eiges, Rachel, Y, Yossef Lerner, Kanaan, Moein, Shaked, Hagar Mor, Alahmady, Nada, Vance, Caroline, Newhouse, Stephen J., Breen, Gerome, Nishimura, Agnes L., Shaw, Christopher E., Smith, Bradley N.

المصدر: Gotkine , M , de Majo , M , Wong , C H , Topp , S D , Michaelson-Cohen , R , Epsztejn-Litman , S , Eiges , R , Y , Y L , Kanaan , M , Shaked , H M , Alahmady , N , Vance , C , Newhouse , S J , Breen , G , Nishimura , A L , Shaw , C E & Smith , B N 2021 , ' A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay ' ....

مصطلحات موضوعية: Allele, ALS (Amyotrophic Lateral Sclerosis), LoF (loss of function), NMD (nonsense mediated decay), Optineurin

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/4940f51f-8467-4bff-9970-9814e76fe943
https://doi.org/10.1016/j.neurobiolaging.2021.05.009
http://www.scopus.com/inward/record.url?scp=85110457220&partnerID=8YFLogxK

المؤلفون: Avitzour, Michal, Mor-Shaked, Hagar, Yanovsky-Dagan, Shira, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Levy-Lahad, Ephrat, Epsztejn-Litman, Silvina, Eiges, Rachel

المصدر: Stem Cell Reports ; volume 3, issue 5, page 699-706 ; ISSN 2213-6711

الاتاحة: http://dx.doi.org/10.1016/j.stemcr.2014.09.001
https://api.elsevier.com/content/article/PII:S2213671114002860?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2213671114002860?httpAccept=text/plain

المؤلفون: Milman Krentsis, Irit, Sela, Ilan, Eiges, Rachel, Blanchard, Véronique, Berger, Markus, Becker Cohen, Michal, Mitrani-Rosenbaum, Stella

المساهمون: Palau, Francesc

المصدر: PLoS ONE ; volume 6, issue 6, page e21389 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0021389
http://dx.plos.org/10.1371/journal.pone.0021389

المؤلفون: Epsztejn-Litman, Silvina, Eiges, Rachel

المصدر: Fragile-X Syndrome ; Methods in Molecular Biology ; page 29-48 ; ISSN 1064-3745 1940-6029 ; ISBN 9781493990795 9781493990801

الاتاحة: http://dx.doi.org/10.1007/978-1-4939-9080-1_3
http://link.springer.com/content/pdf/10.1007/978-1-4939-9080-1_3

المؤلفون: Eiges, Rachel, Urbach, Achia, Malcov, Mira, Frumkin, Tsvia, Schwartz, Tamar, Amit, Ami, Yaron, Yuval, Eden, Amir, Yanuka, Ofra, Benvenisty, Nissim, Ben-Yosef, Dalit

المصدر: Cell Stem Cell ; volume 1, issue 5, page 568-577 ; ISSN 1934-5909

الاتاحة: http://dx.doi.org/10.1016/j.stem.2007.09.001
https://api.elsevier.com/content/article/PII:S1934590907001713?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1934590907001713?httpAccept=text/plain

المؤلفون: Dvash, Tamar, Ben-Yosef, Dalit, Eiges, Rachel

المصدر: Pediatric Research ; volume 60, issue 2, page 111-117 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/01.pdr.0000228349.24676.17

المؤلفون: Dvash, Tamar, Mayshar, Yoav, Darr, Henia, McElhaney, Michael, Barker, Douglas, Yanuka, Ofra, Kotkow, Karen J., Rubin, Lee L., Benvenisty, Nissim, Eiges, Rachel

مصطلحات موضوعية: Embryology

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/19/12/2875; http://dx.doi.org/10.1093/humrep/deh529

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/19/12/2875
https://doi.org/10.1093/humrep/deh529