المؤلفون: Kooblall, Kreepa, Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius, Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger, Brown, Stephen, Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia, Hannan, Fadil, Bassett, J, Williams, Graham, Lines, Kate, Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul, Thakker, Rajesh

المصدر: JBMR Plus. 7(6)

مصطلحات موضوعية: NFIX, brain abnormalities, frameshift mutation, kyphosis, osteopenia

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6vm0727sTest

المؤلفون: Balderson, Brad, Fane, Mitchell, Harvey, Tracey J, Piper, Michael, Smith, Aaron, Bodén, Mikael

المساهمون: Australian Government Research Training Program

المصدر: Briefings in Functional Genomics ; ISSN 2041-2649 2041-2657

مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, General Medicine

الإتاحة: https://doi.org/10.1093/bfgp/elad055Test

المؤلفون: Mitchell, Benjamin, Mu, Erica, Currey, Laura, Whitehead, Darryl, Walters, Shaun, Thor, Stefan, Kasherman, Maria, Piper, Michael

المساهمون: Australian Research Council

المصدر: Neuroscience Letters ; volume 824, page 137675 ; ISSN 0304-3940

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.1016/j.neulet.2024.137675Test
https://api.elsevier.com/content/article/PII:S0304394024000521?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0304394024000521?httpAccept=text/plainTest

المؤلفون: Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J. H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C., Thakker, Rajesh V.

وصف الملف: application/pdf

العلاقة: https://ueaeprints.uea.ac.uk/id/eprint/92291/1/Kooblall_etal_2023_JBMRPlus.pdfTest; Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J. H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C. and Thakker, Rajesh V. (2023) A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith syndrome. JBMR Plus, 7 (6). ISSN 2473-4039

الإتاحة: https://doi.org/10.1002/jbm4.10739Test
https://ueaeprints.uea.ac.uk/id/eprint/92291Test/
https://ueaeprints.uea.ac.uk/id/eprint/92291/1/Kooblall_etal_2023_JBMRPlus.pdfTest

المؤلفون: Balderson, Brad, Piper, Michael, Thor, Stefan, Bodén, Mikael

المساهمون: Mathelier, Anthony, Australian Government Research Training Program, Australian Research Council

المصدر: Bioinformatics ; volume 39, issue 7 ; ISSN 1367-4811

مصطلحات موضوعية: Computational Mathematics, Computational Theory and Mathematics, Computer Science Applications, Molecular Biology, Biochemistry, Statistics and Probability

الإتاحة: https://doi.org/10.1093/bioinformatics/btad435Test
https://academic.oup.com/bioinformatics/article-pdf/39/7/btad435/50962393/btad435.pdfTest

المؤلفون: Currey, Laura, Mitchell, Benjamin, Harris, Lachlan, Thor, Stefan, Piper, Michael

المصدر: IBRO Neuroscience Reports ; volume 15, page S84-S85 ; ISSN 2667-2421

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.1016/j.ibneur.2023.08.045Test
https://api.elsevier.com/content/article/PII:S2667242123001070?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2667242123001070?httpAccept=text/plainTest

المؤلفون: Yaghmaeian Salmani, Behzad, Balderson, Brad, Bauer, Susanne, Ekman, Helen, Starkenberg, Annika, Perlmann, Thomas, Piper, Michael, Boden, Mikael, Thor, Stefan

المصدر: Development. 149(5)

مصطلحات موضوعية: Cell specification, Epigenetics, H3K27me3, H3K4me1/3, Neuropeptide neurons, Mouse

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-184143Test
https://liu.diva-portal.org/smash/get/diva2:1650919/FULLTEXT01.pdfTest

المؤلفون: Gaik, Monika, Kojic, Marija, Stegeman, Megan R., Öncü-Öner, Tülay, Kościelniak, Anna, Jones, Alun, Mohamed, Ahmed, Chau, Pak Yan Stefanie, Sharmin, Sazia, Chramiec-Głąbik, Andrzej, Indyka, Paulina, Rawski, Michał, Biela, Anna, Dobosz, Dominika, Millar, Amanda, Chau, Vann, Ünalp, Aycan, Piper, Michael, Bellingham, Mark C., Eichler, Evan E., Nickerson, Deborah A., Güleryüz, Handan, Abbassi, Nour El Hana, Jazgar, Konrad, Davis, Melissa J., Mercimek-Andrews, Saadet, Cingöz, Sultan, Wainwright, Brandon J., Glatt, Sebastian

العلاقة: EMBO Molecular Medicine, T. 14, nr 7; https://ruj.uj.edu.pl/xmlui/handle/item/298036Test

الإتاحة: https://doi.org/10.15252/emmm.202115608Test
https://ruj.uj.edu.pl/xmlui/handle/item/298036Test

المؤلفون: Güleryüz, Handan, Eichler, Evan E, Davis, Melissa J, Mercimek-Andrews, Saadet, Cingöz, Sultan, Gaik, Monika, Kojic, Marija, Stegeman, Megan R, Öncü-Öner, Tülay, Kościelniak, Anna, Wainwright, Brandon J, Glatt, Sebastian, Bellingham, Mark C, Piper, Michael, Ünalp, Aycan, Chau, Vann, Jones, Alun, Jazgar, Konrad, Mohamed, Ahmed, Chau, Pak Yan Stefanie, Sharmin, Sazia, Chramiec-Głąbik, Andrzej, Indyka, Paulina, Rawski, Michał, Biela, Anna, Dobosz, Dominika, Millar, Amanda, Abbassi, Nour El Hana, Nickerson, Deborah A

العلاقة: 35a99bb1-bf31-495f-aa11-e5dbbe480b98; https://avesis.deu.edu.tr/publication/details/35a99bb1-bf31-495f-aa11-e5dbbe480b98/oaiTest

الإتاحة: https://doi.org/10.15252/emmm.202115608Test
https://avesis.deu.edu.tr/publication/details/35a99bb1-bf31-495f-aa11-e5dbbe480b98/oaiTest

المؤلفون: Bitar, Mainá, Weissleder, Christin, North, Hayley F., Clearwater, Misaki S., Zalucki, Oressia, Halliday, Glenda M., Webster, Maree J., Piper, Michael, Weickert, Cynthia Shannon, Barry, Guy

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-021-03976-4Test
https://www.nature.com/articles/s41598-021-03976-4.pdfTest
https://www.nature.com/articles/s41598-021-03976-4Test