المؤلفون: Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

المساهمون: National Health and Medical Research Council

المصدر: The American Journal of Human Genetics ; volume 107, issue 6, page 1157-1169 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.10.005
https://api.elsevier.com/content/article/PII:S0002929720303633?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720303633?httpAccept=text/plain

المؤلفون: Ludwig, Karissa, Lai, Fei, Wiley, Veronica, Ravine, Anja, Srinivasan, Shubha

المساهمون: Pfizer Australasian Paediatric Endocrine Care

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 36, issue 10, page 966-973 ; ISSN 0334-018X 2191-0251

الاتاحة: http://dx.doi.org/10.1515/jpem-2023-0044
https://www.degruyter.com/document/doi/10.1515/jpem-2023-0044/xml
https://www.degruyter.com/document/doi/10.1515/jpem-2023-0044/pdf

المؤلفون: Farrar, Michelle A., Kariyawasam, Didu, Grattan, Sarah, Bayley, Klair, Davis, Mark, Holland, Sandra, Waddel, Leigh B., Jones, Kristi, Lorentzos, Michelle, Ravine, Anja, Wotton, Tiffany, Wiley, Veronica

المصدر: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 1, p15-28, 14p

المؤلفون: Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.

المساهمون: Department of Health, Australian Government

المصدر: European Journal of Human Genetics ; volume 29, issue 1, page 79-87 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-020-0685-x
http://www.nature.com/articles/s41431-020-0685-x.pdf
http://www.nature.com/articles/s41431-020-0685-x

المؤلفون: D'Silva, Arlene M, Kariyawasam, Didu S T, Best, Stephanie, Wiley, Veronica, Farrar, Michelle A, Ravine, Anja, Mowat, David, Sampaio, Hugo, Alexander, Ian E, Russell, Jacqui, Jones, Kristi, Junek, Zena

المصدر: Developmental Medicine & Child Neurology; May2022, Vol. 64 Issue 5, p625-632, 8p

مصطلحات موضوعية: SPINAL muscular atrophy, NEWBORN screening, NEWBORN infants, MEDICAL care

المؤلفون: Bennetts, Bruce, Carey, Louise, Munusamy, Nalishia, Horan, Martin, Chai, Sze Yee, Ravine, Anja

المصدر: Pathology ; volume 51, page S34 ; ISSN 0031-3025

الاتاحة: http://dx.doi.org/10.1016/j.pathol.2018.12.077
https://api.elsevier.com/content/article/PII:S0031302518307426?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0031302518307426?httpAccept=text/plain

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

المؤلفون: Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.

المصدر: European Journal of Human Genetics: EJHG; January 2021, Vol. 29 Issue: 1 p79-87, 9p