26 results for Downie,+Lilian

26 results for Downie,+Lilian

Export to excel
Print

Export record to excel

File type to download

Beta version

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 UK
    Journal title:Molecular psychiatry, 2023-04, Vol.28 (4), p.1647-1663
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Downie, Lilian ; Armiento, Raffaela ; Subhi, Rami ; Kelly, Julian ; Clifford, Vanessa ; Duke, Trevor
    Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
    Journal title:Archives of disease in childhood, 2013-02, Vol.98 (2), p.146-154
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 US
    Journal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Gaff Clara ; Jarmolowicz Anna ; Amor, David J
    Publisher:Bethesda: Elsevier Limited
    Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.937-944
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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, Meaghan
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.521-525
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 Yang
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-08, Vol.59 (8), p.748-758
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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. Abou
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 US
    Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.1986-1993
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 UK
    Journal title:Molecular psychiatry, 2023-04, Vol.28 (4), p.1664-1666
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cloney, Thomas ; Gallacher, Lyndon ; Pais, Lynn ; 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 ; Sadedin, Simon ; Lim, Sze Chern ; Helman, Guy ; Simons, Cas ; MacArthur, Daniel G. ; Thorburn, David R ; O’Donnell-Luria, Anne ; Christodoulou, John ; White, Susan M. ; Tan, Tiong Yang
    Journal title:Journal of medical genetics, 2021-11, Vol.59 (8), p.748-758
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 J
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.363-363
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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: Elsevier BV
    Journal title:Genetics in Medicine, 2019-10, Vol.21 (10), p.2409-2409
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / 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 ; Abdelhak Sonia ; Alexander, John ; Avraham, Karen ; Bhatia Neha ; Bai Donglin ; Boczek Nicole ; Brownstein Zippora ; Burt, Rachel ; Bylstra Yasmin ; del Castillo Ignacio ; Choi, Byung Yoon ; Downie, Lilian ; Friedman, Thomas ; Giersch, Anne ; Goh Jasmine ; Greinwald, John ; Griffith, Andrew J ; Hernandez, Amy ; Holt, Jeffrey ; Hosoya Makoto ; Ying Lim Jiin ; Jain Kanika ; Un-Kyung, Kim ; Kremer Hannie ; Krantz, Ian ; Leal, Suzanne ; Lewis, Morag ; Liu Xue Zhong ; Low, Wendy ; Lu, Yu ; Luo Minjie ; Masmoudi Saber ; Ming Tan Yuen ; Moreno-Pelayo, Miguel Angel ; Morín Matías ; Morton, Cynthia ; Murray, Jaclyn ; Mutai Hideki ; Kiyomitsu, Nara ; Pandya Arti ; Pei-Rong, Sylvia Kam ; Smith Richard J H ; Jamuar Saumya Shekhar ; Suer Funda Elif ; Usami Shin-Ichi ; Van Camp Guy ; Yamazawa Kazuki ; Hui-Jun, Yuan ; Black-Zeigelbein, Elizabeth ; Zhang Keijan
    Publisher:Bethesda: Elsevier Limited
    Journal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Downie, Lilian ; Halliday, Jane L ; Burt, Rachel A ; Lunke, Sebastian ; Lynch, Elly ; Martyn, Melissa ; Poulakis, Zeffie ; Gaff, Clara ; Sung, Valerie ; Wake, Melissa ; Hunter, Matthew ; Saunders, Kerryn ; Rose, Elizabeth ; Rehm, Heidi L ; Amor, David J
    Publisher:England: BMJ Publishing Group LTD
    Journal title:BMJ paediatrics open, 2017-09, Vol.1 (1), p.e000119
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Downie, Lilian ; Crawford, Nigel W ; Su, John ; Buttery, Jim P ; Goss, Peter W
    Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
    Journal title:Archives of disease in childhood, 2012-12, Vol.97 (12), p.1069-1069
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 21 to 40 of 26 results