المؤلفون: Nicolas-Martinez, Emmylou, C, Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark, A, Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare, L, Scheffer, Ingrid, E, Hildebrand, Michael, S, Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett, G, Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard, I, Evesson, Frances, J, Jones, Kristi, J, Azmanov, Dimitar, N, Barnett, Christopher, P, Barry, Simon, C, Baynam, Gareth, Berkovic, Samuel, F, Christodoulou, John, Coman, David, J, Cooper, Sandra, T, Delatycki, Martin, Dudding, Tracy, E, Fletcher, Sue, Gardner, Alison, E, Gecz, Jozef, Higgins, Megan, J, Jolly, Lachlan, A, Lister, Ryan, Mcgaughran, Julie, Poulton, Cathryn, Roscioli, Tony, Scheffer, Ingrid, Scott, Hamish S., Sinclair, Andrew, H, Spurdle, Amanda, B, Tan, Tiong, Y, Voineagu, Irina

المساهمون: The Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, School of Biomedicine, Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, The University of Western Australia, Crawley, WA 6009, Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Bio2M team (Inserm U1183), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Les Hôpitaux Universitaires de Strasbourg (HUS), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies rares des déficiences intellectuelles de causes rares (CHU Dijon) (CRMR des déficiences intellectuelles de causes rares), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), ANR-21-CE17-0053,IDGePhe-PAK,Etude de la relation Génotype-Phénotype dans la déficience intellectuelle pour améliorer le diagnostic et proposer des approches thérapeutiques personnalisées : exemple des mutations du gène PAK3(2021)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/39084224; hal-04668148; https://hal.science/hal-04668148; https://hal.science/hal-04668148/document; https://hal.science/hal-04668148/file/2024-Nicolas-Martinez%20Gecz%20Jolly%202024%20RNA%20variant%20assessment.pdf; PUBMED: 39084224

الاتاحة: https://hal.science/hal-04668148
https://hal.science/hal-04668148/document
https://hal.science/hal-04668148/file/2024-Nicolas-Martinez%20Gecz%20Jolly%202024%20RNA%20variant%20assessment.pdf
https://doi.org/10.1016/j.ajhg.2024.06.018

المؤلفون: Cui, Cathy K., Wong, Wui-Kwan, Wong, Chong H., Gill, Deepak, Fong, Michael W. K.

المصدر: Frontiers in Network Physiology ; volume 4 ; ISSN 2674-0109

الاتاحة: http://dx.doi.org/10.3389/fnetp.2024.1425329
https://www.frontiersin.org/articles/10.3389/fnetp.2024.1425329/full

المؤلفون: Wong, Wui‐Kwan, Troedson, Christopher, Peacock, Ken, Brilot‐Turville, Fabienne, Menezes, Manoj P, Dale, Russell C, Webster, Richard

المصدر: Journal of Paediatrics and Child Health ; volume 58, issue 12, page 2322-2326 ; ISSN 1034-4810 1440-1754

الاتاحة: http://dx.doi.org/10.1111/jpc.16189
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16189
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jpc.16189

المؤلفون: Wong, Wui‐Kwan, Troedson, Christopher, Dale, Russell C., Roscioli, Tony, Field, Michael, Palmer, Elizabeth, Martin, Ellenore M., Kumar, Kishore R., Mohammad, Shekeeb S.

المساهمون: Cerebral Palsy Alliance Research Foundation, ASAP

المصدر: Movement Disorders Clinical Practice ; volume 9, issue S2 ; ISSN 2330-1619 2330-1619

الاتاحة: http://dx.doi.org/10.1002/mdc3.13538
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13538
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mdc3.13538

المؤلفون: Wong, Wui‐Kwan, Balasubramaniam, Shanti, Wong, Rachel S. H., Graf, Nicole, Thorburn, David R., McFarland, Robert, Troedson, Christopher

المساهمون: National Health and Medical Research Council

المصدر: JIMD Reports ; volume 63, issue 6, page 546-554 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12326
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12326
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12326

المؤلفون: Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.

المصدر: Human Genetics and Genomics Advances ; volume 3, issue 4, page 100125 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2022.100125
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247722000410?httpAccept=text/plain

المؤلفون: Bosi, Isabelle¹ (AUTHOR) Isabelle.bosi@health.nsw.gov.au, Wong, Wui-Kwan² (AUTHOR), Mohammad, Shekeeb² (AUTHOR), Britton, Philip³ (AUTHOR), Hsu, Peter⁴ (AUTHOR)

المصدر: Journal of Clinical Immunology. Jan2024, Vol. 44 Issue 1, p1-3. 3p.

المؤلفون: Han, Velda X, Kozlowska, Kasia, Kothur, Kavitha, Lorentzos, Michelle, Wong, Wui Kwan, Mohammad, Shekeeb S, Savage, Blanche, Chudleigh, Catherine, Dale, Russell C

مصطلحات موضوعية: COVID-19, Coronavirus

Relation: National University of Singapore; National Health and Medical Research Council; https://hdl.handle.net/2123/28316

الاتاحة: https://hdl.handle.net/2123/28316
https://doi.org/10.1111/jpc.15932

المؤلفون: Wong, Wui-Kwan, Troedson, Christopher, Hengel, Holger, Mohammad, Shekeeb S, Damme, Markus, Goetti, Robert, Temple, Suzanna E L, Schöls, Ludger, Balousha, Ghassan, Prelog, Kristina, Buckley, Michael, Roscioli, Tony

المصدر: Movement disorders 37(4), 870-872 (2022). doi:10.1002/mds.28915

مصطلحات موضوعية: info:eu-repo/classification/ddc/610

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0885-3185; info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:34981858; https://pub.dzne.de/record/163673; https://pub.dzne.de/search?p=id:%22DZNE-2022-00419%22

الاتاحة: https://pub.dzne.de/record/163673
https://pub.dzne.de/search?p=id:%22DZNE-2022-00419%22

المؤلفون: Wong, Wui‐Kwan, Troedson, Christopher, Damme, Markus, Goetti, Robert, Temple, Suzanna E.L., Schöls, Ludger, Balousha, Ghassan, Prelog, Kristina, Buckley, Michael, Roscioli, Tony, Hengel, Holger, Mohammad, Shekeeb S.

المساهمون: Cerebral Palsy Alliance Research Foundation, Deutsche Forschungsgemeinschaft, Eberhard Karls Universität Tübingen

المصدر: Movement Disorders ; volume 37, issue 4, page 870-872 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.28915
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28915
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28915

المؤلفون: Wong, Wui-Kwan, Bryen, Samantha J, Bournazos, Adam, Yasa, Joe, Lemckert, Frances, Bommireddipall, Shobhana, Waddell, Leigh B, Menezes, Manoj P, Webster, Richard, Davis, Mark, Liang, Christina, Cooper, Sandra T, Jones, Kristi J

المساهمون: National Health and Medical Research Council, University of Sydney

المصدر: Neuromuscular Disorders ; volume 32, issue 9, page 707-717 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2022.07.401
https://api.elsevier.com/content/article/PII:S0960896622006150?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896622006150?httpAccept=text/plain

المؤلفون: Wong, Wui-Kwan^1,2 (AUTHOR) wuikwan.wong@health.nsw.gov.au, Warner, Denise³ (AUTHOR), Webster, Richard¹ (AUTHOR)

المصدر: Neuromuscular Disorders. Dec2024, Vol. 45, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *MUSCULAR dystrophy, *COXSACKIEVIRUS diseases, *CREATINE kinase, *MYOSITIS, *CONGENITAL disorders

المؤلفون: Han, Velda X, Kozlowska, Kasia, Kothur, Kavitha, Lorentzos, Michelle, Wong, Wui Kwan, Mohammad, Shekeeb S, Savage, Blanche, Chudleigh, Catherine, Dale, Russell C

المصدر: Journal of Paediatrics & Child Health; Jul2022, Vol. 58 Issue 7, p1181-1187, 7p

المؤلفون: Bournazos, Adam M., Riley, Lisa G., Bommireddipalli, Shobhana, Ades, Lesley, Akesson, Lauren S., Al-Shinnag, Mohammad, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Edwards, Matthew, Engel, Amanda, Ewans, Lisa J., Faiz, Fathimath, Fennell, Andrew, Field, Michael, Freckmann, Mary-Louise, Gallacher, Lyndon, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Goodwin, Linda, Hanna, Bernadette, Harraway, James, Higgins, Megan, Ho, Gladys, Hopper, Bruce K., Horton, Ari E., Hunter, Matthew F., Huq, Aamira J., Josephi-Taylor, Sarah, Joshi, Himanshu, Kirk, Edwin, Krzesinski, Emma, Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Lunke, Sebastian, Ma, Alan, Macaskill, Steven, Mallawaarachchi, Amali, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., McLean, Alison, Milnes, Di, Mohammad, Shekeeb, Mowat, David, Niaz, Aram, Palmer, Elizabeth E., Patel, Chirag, Patel, Shilpan G., Phelan, Dean, Pinner, Jason R., Rajagopalan, Sulekha, Regan, Matthew, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Roscioli, Tony, Samarasekera, Ruvishani, Sandaradura, Sarah A., Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Janine M., Smith, Richard J., Springer, Amanda, Stark, Zornitza, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tan, Tiong Y., Tantsis, Esther, Tchan, Michel C., Thompson, Bryony A., Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, White, Susan M., Williams, Mark G., Wilson, Meredith J., Wong, Wui Kwan, Wright, Dale C., Yap, Patrick, Yeung, Alison, Young, Helen, Jones, Kristi J., Bennetts, Bruce, Cooper, Sandra T., Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew

المصدر: Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p