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1دورية أكاديمية
المؤلفون: Baradaran-Heravi, Alireza, Balgi, Aruna D., Hosseini-Farahabadi, Sara, Choi, Kunho, Has, Cristina, Roberge, Michel
المصدر: Nucleic acids research. - 49, 7 (2021) , 3692-3708, ISSN: 1362-4962
وصف الملف: pdf
الإتاحة: https://doi.org/10.1093/nar/gkab194Test
https://freidok.uni-freiburg.de/data/194554Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-1945543Test
https://freidok.uni-freiburg.de/dnb/download/194554Test -
2دورية أكاديمية
المؤلفون: Hosseini-Farahabadi, Sara, Baradaran-Heravi, Alireza, Zimmerman, Carla, Choi, Kunho, Flibotte, Stephane, Roberge, Michel
المساهمون: Khosla, Chaitan, Canadian Institutes of Health Research
المصدر: PLOS Biology ; volume 19, issue 5, page e3001221 ; ISSN 1545-7885
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3دورية أكاديمية
المؤلفون: Baradaran-Heravi, Alireza, Niesser, Jürgen, Balgi, Aruna D., Choi, Kunho, Zimmerman, Carla, South, Andrew P., Anderson, Hilary J., Strynadka, Natalie C., Bally, Marcel B., Roberge, Michel
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Mar . 114(13), 3479-3484.
الوصول الحر: https://www.jstor.org/stable/26480350Test
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4دورية أكاديمية
المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-018-22547-8Test
https://www.nature.com/articles/s41598-018-22547-8.pdfTest
https://www.nature.com/articles/s41598-018-22547-8Test -
5دورية أكاديمية
المؤلفون: Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K, Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F
المساهمون: Child and Family Research Institute
مصطلحات موضوعية: Schimke immuno-osseous dysplasia, SMARCAL1 protein, Focal segmental glomerulosclerosis, Wnt signaling pathway, Notch signaling pathway
العلاقة: Orphanet Journal of Rare Diseases. 2016 Nov 05;11(1):149; http://hdl.handle.net/2429/65943Test
الإتاحة: http://hdl.handle.net/2429/65943Test
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6دورية أكاديمية
المؤلفون: Baradaran-Heravi, Alireza, B, Balgi, Aruna, B, Zimmerman, Carla, B, Choi, Kunho, B, Shidmoossavee, Fahimeh S., Tan, Jason S., Bergeaud, Célia, B, Krause, Alexandra, B, Flibotte, Stéphane, Shimizu, Yoko, B, Anderson, Hilary J., Mouly, Vincent, B, Jan, Eric, B, Pfeifer, Tom, B, Jaquith, James B., Roberge, Michel, B
المساهمون: University of British Columbia (UBC), Centre for drug research and development, Vancouver, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
المصدر: ISSN: 0305-1048.
مصطلحات موضوعية: [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication
العلاقة: hal-01375660; https://hal.sorbonne-universite.fr/hal-01375660Test; https://hal.sorbonne-universite.fr/hal-01375660/documentTest; https://hal.sorbonne-universite.fr/hal-01375660/file/Nucl.%20Acids%20Res.-2016-Baradaran-Heravi-6583-98.pdfTest
الإتاحة: https://doi.org/10.1093/nar/gkw638Test
https://hal.sorbonne-universite.fr/hal-01375660Test
https://hal.sorbonne-universite.fr/hal-01375660/documentTest
https://hal.sorbonne-universite.fr/hal-01375660/file/Nucl.%20Acids%20Res.-2016-Baradaran-Heravi-6583-98.pdfTest -
7دورية أكاديمية
المؤلفون: Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, YİŞ, ULUÇ, Yu, Zhongxin, Beirnes, Kimberly, Hendson, Glenda, Boerkoel, Cornelius F., Myung, Clara, Morimoto, Marie, Zonana, Jonathan, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira
العلاقة: 70f97427-00e6-4f2e-bb1e-1704beacdafb; https://avesis.deu.edu.tr/publication/details/70f97427-00e6-4f2e-bb1e-1704beacdafb/oaiTest
الإتاحة: https://doi.org/10.1186/s13023-016-0519-7Test
https://avesis.deu.edu.tr/publication/details/70f97427-00e6-4f2e-bb1e-1704beacdafb/oaiTest -
8دورية أكاديمية
المؤلفون: Morimoto, Marie, Choi, Kunho, Boerkoel, Cornelius F., Cho, Kyoung Sang
المصدر: Nucleus ; volume 7, issue 6, page 560-571 ; ISSN 1949-1034 1949-1042
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9دورية أكاديمية
المؤلفون: Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E., Boerkoel, Cornelius F.
المصدر: Dias , C , Rupps , R , Millar , B , Choi , K , Marra , M , Demos , M , Kratz , L E & Boerkoel , C F 2014 , ' Desmosterolosis : An illustration of diagnostic ambiguity of cholesterol synthesis disorders ' , Orphanet Journal of Rare Diseases , vol. 9 , no. 1 , 94 . https://doi.org/10.1186/1750-1172-9-94Test
مصطلحات موضوعية: Cholesterol biosynthesis, Desmosterol, DHCR24, Exome sequencing, Intellectual disability
الإتاحة: https://doi.org/10.1186/1750-1172-9-94Test
https://kclpure.kcl.ac.uk/portal/en/publications/b881549a-c8e3-4779-ac3e-1a926523dec3Test
http://www.scopus.com/inward/record.url?scp=84902905334&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Dean, Richard A., Fam, Hok Khim, An, Jianghong, Choi, Kunho, Shimizu, Yoko, Jones, Steven J.M., Boerkoel, Cornelius F., Interthal, Heidrun, Pfeifer, Tom A.
المصدر: SLAS Discovery ; volume 19, issue 10, page 1372-1382 ; ISSN 2472-5552
مصطلحات موضوعية: Molecular Medicine, Biochemistry, Analytical Chemistry, Biotechnology
الإتاحة: https://doi.org/10.1177/1087057114546551Test
https://api.elsevier.com/content/article/PII:S2472555222074391?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2472555222074391?httpAccept=text/plainTest