المؤلفون: van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske

المصدر: van der Spek , J , den Hoed , J , Snijders Blok , L , Dingemans , A J M , Schijven , D , Nellaker , C , Venselaar , H , Astuti , G D N , Barakat , T S , Bebin , E M , Beck-Wödl , S , Beunders , G , Brown , N J , Brunet , T , Brunner , H G , Campeau , P M , Čuturilo , G , Gilissen , C , Haack , T B , Hüning , I , Husain , R A , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://pure.eur.nl/en/publications/571e3f57-8629-4727-8103-96bd9f6be01f
https://doi.org/10.1016/j.gim.2022.02.014
http://www.scopus.com/inward/record.url?scp=85127307112&partnerID=8YFLogxK
https://hdl.handle.net/11370/2f6d1d64-990e-4c6e-9f3d-5ff50e08704f

المؤلفون: Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

المصدر: The American Journal of Human Genetics ; volume 109, issue 4, page 587-600 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.02.001
https://api.elsevier.com/content/article/PII:S0002929722000520?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722000520?httpAccept=text/plain

المؤلفون: Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Ichimoto, Keiko, Naruke, Yuki, Akiyama, Nana, Lim, Sze Chern, Yatsuka, Yukiko, Nitta, Kazuhiro R., Kishita, Yoshihito, Fushimi, Takuya, Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei

المساهمون: Japan Agency for Medical Research and Development

المصدر: Molecular Genetics and Metabolism Reports ; volume 33, page 100912 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2022.100912
https://api.elsevier.com/content/article/PII:S2214426922000726?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426922000726?httpAccept=text/plain

المؤلفون: Wilson, Matthew P., Garanto, Alejandro, Pinto e Vairo, Filippo, Ng, Bobby G., Ranatunga, Wasantha K., Ventouratou, Marina, Baerenfaenger, Melissa, Huijben, Karin, Thiel, Christian, Ashikov, Angel, Keldermans, Liesbeth, Souche, Erika, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Michelakakis, Helen, Fiumara, Agata, Pitt, James, White, Susan M., Lim, Sze Chern, Gallacher, Lyndon, Peters, Heidi, Rymen, Daisy, Witters, Peter, Ribes, Antonia, Morales-Romero, Blai, Rodríguez-Palmero, Agustí, Ballhausen, Diana, de Lonlay, Pascale, Barone, Rita, Janssen, Mirian C.H., Jaeken, Jaak, Freeze, Hudson H., Matthijs, Gert, Morava, Eva, Lefeber, Dirk J.

المصدر: Wilson , M P , Garanto , A , Pinto e Vairo , F , Ng , B G , Ranatunga , W K , Ventouratou , M , Baerenfaenger , M , Huijben , K , Thiel , C , Ashikov , A , Keldermans , L , Souche , E , Vuillaumier-Barrot , S , Dupré , T , Michelakakis , H , Fiumara , A , Pitt , J , White , S M , Lim , S C , Gallacher , L , Peters , H , Rymen , D , Witters , P , ....

مصطلحات موضوعية: congenital disorders of glycosylation, dominant inheritance, glycosylation, oligosaccharyltransferase complex

الاتاحة: https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56
https://doi.org/10.1016/j.ajhg.2021.09.012
https://hdl.handle.net/1871.1/1bed4f1e-f652-4ed4-a577-46c9142faa56
http://www.scopus.com/inward/record.url?scp=85118510371&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85118510371&partnerID=8YFLogxK

المؤلفون: Lim, Sze Chern, Tajika, Makiko, Shimura, Masaru, Carey, Kirstyn T., Stroud, David A., Murayama, Kei, Ohtake, Akira, McKenzie, Matthew

المصدر: Lim , S C , Tajika , M , Shimura , M , Carey , K T , Stroud , D A , Murayama , K , Ohtake , A & McKenzie , M 2018 , ' Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function ' , Scientific Reports , vol. 8 , no. 1 , 153 . https://doi.org/10.1038/s41598-017-18530-4

وصف الملف: application/pdf

الاتاحة: https://research.monash.edu/en/publications/8c82eec6-8245-45ff-8e9a-bfc55fa7a5b3
https://doi.org/10.1038/s41598-017-18530-4
https://researchmgt.monash.edu/ws/files/238916814/225564768_oa.pdf
http://www.scopus.com/inward/record.url?scp=85040516298&partnerID=8YFLogxK

المؤلفون: Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Zeev, Bruria Ben, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Burns Wechsler, Stephanie, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-Line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Suk-Ying Goh, Elaine, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, TUDP Study Group, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Weisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Broad Center for Mendelian Genomics, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Neurodevelopment, Global developmental delay, Brain malformation, Epilepsy, Macrocephaly, Intellectual disability, Hypotonia, Gastrointestinal issues, FBXW7, F-box protein

وصف الملف: application/pdf

Relation: American Journal of Human Genetics; Stephenson SEM, Costain G, Blok LER, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022;109(4):601-617. doi:10.1016/j.ajhg.2022.03.002; https://hdl.handle.net/1805/35407

الاتاحة: https://hdl.handle.net/1805/35407

المؤلفون: Ziemann, Mark, Lim, Sze Chern, Kang, Yilin, Samuel, Sona, Sanchez, Isabel Lopez, Gantier, Michael, Stojanovski, Diana, McKenzie, Matthew

المساهمون: Australian Mitochondrial Disease Foundation

المصدر: Journal of Molecular Biology ; volume 434, issue 2, page 167361 ; ISSN 0022-2836

الاتاحة: http://dx.doi.org/10.1016/j.jmb.2021.167361
https://api.elsevier.com/content/article/PII:S0022283621005982?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022283621005982?httpAccept=text/plain

المؤلفون: Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, Kleefstra, Tjitske

URL: https://doi.org/10.1016/j.gim.2022.02.014
http://hdl.handle.net/1874/446509
https://dspace.library.uu.nl/handle/1874/446509
http://www.scopus.com/inward/record.url?scp=85127307112&partnerID=8YFLogxK
1098-3600
Genetics in medicine : official journal of the American College of Medical Genetics
24
6
1283
1296

المؤلفون: Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn S, Tan, Natalie B, Yeung, Alison, Stark, Zornitza, Brown, Natasha J, McGillivray, George, Delatycki, Martin B, de Silva, Michelle G, Downie, Lilian, Stutterd, Chloe A, Elliott, Justine, Compton, Alison G, Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina M, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, Macarthur, Daniel G, Thorburn, David R, O'Donnell-Luria, Anne H, Christodoulou, John, White, Susan M, Tan, Tiong Yang

المساهمون: National Eye Institute, Victorian government Operational Infrastructure Support Program, National Human Genome Research Institute, the National Heart, Lung and Blood Institute, Murdoch Children’s Research Institute

المصدر: Journal of Medical Genetics ; volume 59, issue 8, page 748-758 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2021-107902
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2021-107902

المؤلفون: Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.

المصدر: The American Journal of Human Genetics ; volume 94, issue 2, page 209-222 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2013.12.015
https://api.elsevier.com/content/article/PII:S0002929713005855?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929713005855?httpAccept=text/xml

المؤلفون: Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.

المصدر: Human Molecular Genetics ; volume 22, issue 22, page 4460-4473 ; ISSN 1460-2083 0964-6906

الاتاحة: http://dx.doi.org/10.1093/hmg/ddt295
http://academic.oup.com/hmg/article-pdf/22/22/4460/14139973/ddt295.pdf

المؤلفون: Riley, Lisa G., Cooper, Sandra, Hickey, Peter, Rudinger-Thirion, Joëlle, McKenzie, Matthew, Compton, Alison, Lim, Sze Chern, Thorburn, David, Ryan, Michael T., Giegé, Richard, Bahlo, Melanie, Christodoulou, John

المصدر: The American Journal of Human Genetics ; volume 87, issue 1, page 52-59 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2010.06.001
https://api.elsevier.com/content/article/PII:S0002929710003046?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929710003046?httpAccept=text/plain

المؤلفون: Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn S., Tan, Natalie B., Yeung, Alison, Stark, Zornitza, Brown, Natasha J., McGillivray, George, Delatycki, Martin B., de Silva, Michelle G., Downie, Lilian, Stutterd, Chloe A., Elliott, Justine, Compton, Alison G., Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina M., Sadedin, Simon, Lim, Sze Chern

المصدر: Journal of Medical Genetics; Aug2022, Vol. 59 Issue 8, p748-758, 11p

المؤلفون: Kaur, Simranpreet, Van Bergen, Nicole J., Ben-Zeev, Bruria, Leonardi, Emanuela, Tan, Tiong Y., Coman, David, Kamien, Benjamin, White, Susan M., St John, Miya, Phelan, Dean, Rigbye, Kristin, Lim, Sze Chern, Torres, Michelle C., Marty, Melanie, Savva, Elena, Zhao, Teresa, Massey, Sean, Murgia, Alessandra, Gold, Wendy A., Christodoulou, John

المساهمون: National Health and Medical Research Council, Department of Health, State Government of Victoria

المصدر: Journal of Genetics and Genomics ; volume 47, issue 10, page 650-654 ; ISSN 1673-8527

الاتاحة: http://dx.doi.org/10.1016/j.jgg.2020.09.003
https://api.elsevier.com/content/article/PII:S1673852720301661?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1673852720301661?httpAccept=text/plain

المؤلفون: Lim, Sze Chern, Hroudová, Jana, Van Bergen, Nicole J., Sanchez, M. Isabel G. Lopez, Trounce, Ian A., McKenzie, Matthew

المساهمون: Monash University

المصدر: The FASEB Journal ; volume 30, issue 6, page 2236-2248 ; ISSN 0892-6638 1530-6860

الاتاحة: http://dx.doi.org/10.1096/fj.201500137r
https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.201500137R
https://onlinelibrary.wiley.com/doi/full-xml/10.1096/fj.201500137R

المؤلفون: Borna, Nurun Nahar, Kishita, Yoshihito, Kohda, Masakazu, Lim, Sze Chern, Shimura, Masaru, Wu, Yibo, Mogushi, Kaoru, Yatsuka, Yukiko, Harashima, Hiroko, Hisatomi, Yuichiro, Fushimi, Takuya, Ichimoto, Keiko, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi

المصدر: Neurogenetics; Mar2019, Vol. 20 Issue 1, p9-25, 17p

المؤلفون: Lim, Sze Chern, Carey, Kirstyn T, McKenzie, Matthew

مصطلحات موضوعية: Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2f2cfa87d8875b397d4b65b45846c923
https://europepmc.org/articles/PMC4396027/

المؤلفون: Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L., Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.

المصدر: Science Translational Medicine ; volume 4, issue 118 ; ISSN 1946-6234 1946-6242

الاتاحة: http://dx.doi.org/10.1126/scitranslmed.3003310
https://www.science.org/doi/pdf/10.1126/scitranslmed.3003310

المؤلفون: Lim, Sze Chern

مصطلحات الفهرس: mitochondria, massively parallel sequencing, mitochondrial disorders, molecular genetics, PhD thesis

URL: http://hdl.handle.net/11343/37362

المؤلفون: McKenzie, Matthew, Chiotis, Maria, Hroudová, Jana, Lopez Sanchez, Maria I.G., Lim, Sze Chern, Cook, Mark J., McKelvie, Penny, Cotton, Richard G. H., Murphy, Michael, St John, Justin C., Trounce, Ian A.

المصدر: Human Mutation; Dec2014, Vol. 35 Issue 12, p1476-1484, 9p