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Author / Creator:Patterson, Phil, author.
Publisher:Merrylands, NSW Phil & Lilian Patterson, [2016]
Call Numbers:HQ 2018/0069
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ArticlesPeer ReviewedFull TextAuthor / Creator:Lynch, Fiona ; Best, Stephanie ; Gaff, Clara ; Downie, Lilian ; Archibald, Alison D. ; Gyngell, Christopher ; Goranitis, Ilias ; Peters, Riccarda ; Savulescu, Julian ; Lunke, Sebastian ; Stark, Zornitza ; Vears, Danya F.Publisher:England: BioMed CentralJournal title:Human genomics, 2024-05, Vol.18 (1), p.45-9, Article 45View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Lynch, Fiona ; Best, Stephanie ; Gaff, Clara ; Downie, Lilian ; Archibald, Alison D. ; Gyngell, Christopher ; Goranitis, Ilias ; Peters, Riccarda ; Savulescu, Julian ; Lunke, Sebastian ; Stark, Zornitza ; Vears, Danya F.Publisher:Switzerland: MDPI AGJournal title:International journal of neonatal screening, 2024-01, Vol.10 (1), p.6View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Bouffler, Sophie E ; Lee, Ling ; Lynch, Fiona ; Martyn, Melissa ; Lynch, Elly ; Macciocca, Ivan ; Curnow, Lisette ; McCorkell, Giulia ; Lunke, Sebastian ; Chong, Belinda ; Marum, Justine E ; Delatycki, Martin ; Downie, Lilian ; Goranitis, Ilias ; Vears, Danya F ; Best, Stephanie ; Clausen, Marc ; Bombard, Yvonne ; Stark, Zornitza ; Gaff, Clara LPublisher:England: British Medical Journal Publishing GroupJournal title:BMJ open, 2023-06, Vol.13 (6), p.e072999View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Lunke, Sebastian ; Bouffler, Sophie E ; Downie, Lilian ; Caruana, Jade ; Amor, David J ; Archibald, Alison ; Bombard, Yvonne ; Christodoulou, John ; Clausen, Marc ; De Fazio, Paul ; Greaves, Ronda F ; Hollizeck, Sebastian ; Kanga-Parabia, Anaita ; Lang, Nitzan ; Lynch, Fiona ; Peters, Riccarda ; Sadedin, Simon ; Tutty, Erin ; Eggers, Stefanie ; Lee, Crystle ; Wall, Meaghan ; Yeung, Alison ; Gaff, Clara ; Gyngell, Christopher ; Vears, Danya F ; Best, Stephanie ; Goranitis, Ilias ; Stark, ZornitzaPublisher:England: British Medical Journal Publishing GroupJournal title:BMJ open, 2024-04, Vol.14 (4), p.e081426View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Holzinger, Daniel ; Dall, Magdalena ; Kiblböck, Sandra ; Dirks, Evelien ; Carew, Peter ; Smith, Libby ; Downie, Lilian ; Shepherd, Daisy A. ; Sung, ValeriePublisher:Basel: MDPI AGJournal title:Children (Basel), 2022-07, Vol.9 (7), p.990View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesFull TextAuthor / Creator:Donoghue, Sarah ; Downie, Lilian ; Stutterd, ChloePublisher:Australia: Copyright Agency Limited (Distributor)Journal title:Australian family physician, 2017-04, Vol.46 (4), p.200-204View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Amor, David J.Publisher:United States: American Medical AssociationJournal title:JAMA network open, 2021-07, Vol.4 (7), p.e2114336View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Stark, Zornitza ; Tan, Tiong Y. ; Chong, Belinda ; Brett, Gemma R. ; Yap, Patrick ; Walsh, Maie ; Yeung, Alison ; Peters, Heidi ; Mordaunt, Dylan ; Cowie, Shannon ; Amor, David J. ; Savarirayan, Ravi ; McGillivray, George ; Downie, Lilian ; Ekert, Paul G. ; Theda, Christiane ; James, Paul A. ; Yaplito-Lee, Joy ; Ryan, Monique M. ; Leventer, Richard J. ; Creed, Emma ; Macciocca, Ivan ; Bell, Katrina M. ; Oshlack, Alicia ; Sadedin, Simon ; Georgeson, Peter ; Anderson, Charlotte ; Thorne, Natalie ; Gaff, Clara ; White, Susan M.Publisher:New York: Elsevier IncJournal title:Genetics in medicine, 2016-11, Vol.18 (11), p.1090-1096View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Lunke, Sebastian ; Lynch, Elly ; Martyn, Melissa ; Gaff, Clara ; Jarmolowicz, Anna ; Amor, David J.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2020-05, Vol.22 (5), p.937-944View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Downie, Lilian ; Halliday, Jane ; Burt, Rachel ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Poulakis Zeffie ; Gaff Clara ; Sung, Valerie ; Wake, Melissa ; Hunter, Matthew F ; Saunders, Kerryn ; Rose, Elizabeth ; Lewis, Sharon ; Jarmolowicz Anna ; Phelan, Dean ; Rehm, Heidi L ; Amor, David JPublisher:Leiden: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.587-596View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E. ; Braden, Ruth ; van Reyk, Olivia ; Howell, Tegan ; Debono, Simone ; Lauretta, Mariana ; Morison, Lottie ; Coleman, Matthew J. ; Webster, Richard ; Coman, David ; Goel, Himanshu ; Wallis, Mathew ; Dabscheck, Gabriel ; Downie, Lilian ; Baker, Emma K. ; Parry-Fielder, Bronwyn ; Ballard, Kirrie ; Harrold, Eva ; Ziegenfusz, Shaun ; Bennett, Mark F. ; Robertson, Erandee ; Wang, Longfei ; Boys, Amber ; Fisher, Simon E. ; Amor, David J. ; Scheffer, Ingrid E. ; Bahlo, Melanie ; Morgan, Angela T.Publisher:London: Nature Publishing Group UKJournal title:Molecular psychiatry, 2023-04, Vol.28 (4), p.1647-1663View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Downie, Lilian ; Armiento, Raffaela ; Subhi, Rami ; Kelly, Julian ; Clifford, Vanessa ; Duke, TrevorPublisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthJournal title:Archives of disease in childhood, 2013-02, Vol.98 (2), p.146-154View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:DiStefano, Marina T. ; Hemphill, Sarah E. ; Oza, Andrea M. ; Siegert, Rebecca K. ; Grant, Andrew R. ; Hughes, Madeline Y. ; Cushman, Brandon J. ; Azaiez, Hela ; Booth, Kevin T. ; Chapin, Alex ; Duzkale, Hatice ; Matsunaga, Tatsuo ; Shen, Jun ; Zhang, Wenying ; Kenna, Margaret ; Schimmenti, Lisa A. ; Tekin, Mustafa ; Rehm, Heidi L. ; Tayoun, Ahmad N. Abou ; Amr, Sami S.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Gaff Clara ; Jarmolowicz Anna ; Amor, David JPublisher:Bethesda: Elsevier LimitedJournal title:Genetics in medicine, 2020-05, Vol.22 (5), p.937-944View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Francis, David I ; Stark, Zornitza ; Scheffer, Ingrid E ; Tan, Tiong Yang ; Murali, Krithika ; Gallacher, Lyndon ; Amor, David J ; Goel, Himanshu ; Downie, Lilian ; Stutterd, Chloe A ; Krzesinski, Emma I ; Vasudevan, Anand ; Oertel, Ralph ; Petrovic, Vida ; Boys, Amber ; Wei, Vivian ; Burgess, Trent ; Dun, Karen ; Oliver, Karen L ; Baxter, Anne ; Hackett, Anna ; Ayres, Samantha ; Lunke, Sebastian ; Kalitsis, Paul ; Wall, MeaghanPublisher:Leiden: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.521-525View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator: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 YangPublisher:England: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 2022-08, Vol.59 (8), p.748-758View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Patel, Mayher J. ; DiStefano, Marina T. ; Oza, Andrea M. ; Hughes, Madeline Y. ; Wilcox, Emma H. ; Hemphill, Sarah E. ; Cushman, Brandon J. ; Grant, Andrew R. ; Siegert, Rebecca K. ; Shen, Jun ; Chapin, Alex ; Boczek, Nicole J. ; Schimmenti, Lisa A. ; Nara, Kiyomitsu ; Kenna, Margaret ; Azaiez, Hela ; Booth, Kevin T. ; Avraham, Karen B. ; Kremer, Hannie ; Griffith, Andrew J. ; Rehm, Heidi L. ; Amr, Sami S. ; Tayoun, Ahmad N. AbouPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y. ; Stark, Zornitza ; Brown, Natasha ; Hunter, Matthew F. ; Delatycki, Martin ; Stutterd, Chloe ; Savarirayan, Ravi ; Mcgillivray, George ; Stapleton, Rachel ; Kumble, Smitha ; Downie, Lilian ; Regan, Matthew ; Lunke, Sebastian ; Chong, Belinda ; Phelan, Dean ; Brett, Gemma R. ; Jarmolowicz, Anna ; Prawer, Yael ; Valente, Giulia ; Smagarinsky, Yana ; Martyn, Melissa ; McEwan, Callum ; Goranitis, Ilias ; Gaff, Clara ; White, Susan M.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2020-12, Vol.22 (12), p.1986-1993View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E. ; Braden, Ruth ; van Reyk, Olivia ; Howell, Tegan ; Debono, Simone ; Lauretta, Mariana ; Morison, Lottie ; Coleman, Matthew J. ; Webster, Richard ; Coman, David ; Goel, Himanshu ; Wallis, Mathew ; Dabscheck, Gabriel ; Downie, Lilian ; Baker, Emma K. ; Parry-Fielder, Bronwyn ; Ballard, Kirrie ; Harrold, Eva ; Ziegenfusz, Shaun ; Bennett, Mark F. ; Robertson, Erandee ; Wang, Longfei ; Boys, Amber ; Fisher, Simon E. ; Amor, David J. ; Scheffer, Ingrid E. ; Bahlo, Melanie ; Morgan, Angela T.Publisher:London: Nature Publishing Group UKJournal title:Molecular psychiatry, 2023-04, Vol.28 (4), p.1664-1666View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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