14 results for Freckmann,+Mary-Louise

14 results for Freckmann,+Mary-Louise

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    Author / Creator:Ewans, Lisa J. ; Schofield, Deborah ; Shrestha, Rupendra ; Zhu, Ying ; Gayevskiy, Velimir ; Ying, Kevin ; Walsh, Corrina ; Lee, Eric ; Kirk, Edwin P ; Colley, Alison ; Ellaway, Carolyn ; Turner, Anne ; Mowat, David ; Worgan, Lisa ; Freckmann, Mary-Louise ; Lipke, Michelle ; Sachdev, Rani ; Miller, David ; Field, Michael ; Dinger, Marcel E. ; Buckley, Michael F. ; Cowley, Mark J ; Roscioli, Tony
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574
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    Author / Creator:Todd, Emily J. ; Yau, Kyle S. ; Ong, Royston ; Slee, Jennie ; McGillivray, George ; Barnett, Christopher P. ; Haliloglu, Goknur ; Talim, Beril ; Akcoren, Zuhal ; Kariminejad, Ariana ; Cairns, Anita ; Clarke, Nigel F. ; Freckmann, Mary-Louise ; Romero, Norma B. ; Williams, Denise ; Sewry, Caroline A ; Colley, Alison ; Ryan, Monique M. ; Kiraly-Borri, Cathy ; Sivadorai, Padma ; Allcock, Richard J.N. ; Beeson, David ; Maxwell, Susan ; Davis, Mark R. ; Laing, Nigel G. ; Ravenscroft, Gianina
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2015-11, Vol.10 (1), p.148-148, Article 148
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    Author / Creator:Miller, Kerry A. ; Ah-Cann, Casey J. ; Welfare, Megan F. ; Tan, Tiong Y. ; Pope, Kate ; Caruana, Georgina ; Freckmann, Mary-Louise ; Savarirayan, Ravi ; Bertram, John F. ; Dobbie, Michael S. ; Bateman, John F. ; Farlie, Peter G.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2013-08, Vol.9 (8), p.e1003746-e1003746
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    Author / Creator:Lee, Eric ; Le, Trang ; Zhu, Ying ; Elakis, George ; Turner, Anne ; Lo, William ; Venselaar, Hanka ; Verrenkamp, Carol-Ann ; Snow, Nicole ; Mowat, David ; Kirk, Edwin Philip ; Sachdev, Rani ; Smith, Janine ; Brown, Natasha Jane ; Wallis, Mathew ; Barnett, Chris ; McKenzie, Fiona ; Freckmann, Mary-Louise ; Collins, Felicity ; Chopra, Maya ; Gregersen, Nerine ; Hayes, Ian ; Rajagopalan, Sulekha ; Tan, Tiong Yang ; Stark, Zornitza ; Savarirayan, Ravi ; Yeung, Alison ; Adès, Lesley ; Gattas, Michael ; Gibson, Kate ; Gabbett, Michael ; Amor, David John ; Lattanzi, Wanda ; Boyd, Simeon ; Haan, Eric ; Gianoutsos, Mark ; Cox, Timothy Chilton ; Buckley, Michael Francis ; Roscioli, Tony
    Journal title:Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
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    Author / Creator:Dagar, Vinod ; Hutchison, Wendy ; Muscat, Andrea ; Krishnan, Anita ; Hoke, David ; Buckle, Ashley ; Siswara, Priscillia ; Amor, David J. ; Mann, Jeffrey ; Pinner, Jason ; Colley, Alison ; Wilson, Meredith ; Sachdev, Rani ; McGillivray, George ; Edwards, Matthew ; Kirk, Edwin ; Collins, Felicity ; Jones, Kristi ; Taylor, Juliet ; Hayes, Ian ; Thompson, Elizabeth ; Barnett, Christopher ; Haan, Eric ; Freckmann, Mary-Louise ; Turner, Anne ; White, Susan ; Kamien, Ben ; Ma, Alan ; Mackenzie, Fiona ; Baynam, Gareth ; Kiraly-Borri, Cathy ; Field, Michael ; Dudding-Byth, Tracey ; Algar, Elizabeth M.
    Publisher:Germany: BioMed Central Ltd
    Journal title:Clinical epigenetics, 2018-08, Vol.10 (1), p.114-114, Article 114
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    Author / Creator:Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah ; Shrestha, Rupendra ; Puttick, Clare ; Zhu, Ying ; Drew, Alexander ; Gayevskiy, Velimir ; Elakis, George ; Walsh, Corrina ; Adès, Lesley C. ; Colley, Alison ; Ellaway, Carolyn ; Evans, Carey-Anne ; Freckmann, Mary-Louise ; Goodwin, Linda ; Hackett, Anna ; Kamien, Benjamin ; Kirk, Edwin P. ; Lipke, Michelle ; Mowat, David ; Palmer, Elizabeth ; Rajagopalan, Sulekha ; Ronan, Anne ; Sachdev, Rani ; Stevenson, William ; Turner, Anne ; Wilson, Meredith ; Worgan, Lisa ; Morel-Kopp, Marie-Christine ; Field, Michael ; Buckley, Michael F. ; Cowley, Mark J. ; Dinger, Marcel E. ; Roscioli, Tony
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2022-10, Vol.30 (10), p.1121-1131
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    Author / Creator:Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V. ; Sandaradura, Sarah A. ; Wilson, Meredith ; Pinner, Jason ; Hunter, Matthew F. ; Barnett, Christopher P. ; Wallis, Mathew ; Kamien, Benjamin ; Tan, Tiong Y. ; Freckmann, Mary-Louise ; Chong, Belinda ; Phelan, Dean ; Francis, David ; Kassahn, Karin S. ; Ha, Thuong ; Gao, Song ; Arts, Peer ; Jackson, Matilda R. ; Scott, Hamish S. ; Eggers, Stefanie ; Rowley, Simone ; Boggs, Kirsten ; Rakonjac, Ana ; Brett, Gemma R. ; de Silva, Michelle G. ; Springer, Amanda ; Ward, Michelle ; Stallard, Kirsty ; Simons, Cas ; Conway, Thomas ; Halman, Andreas ; Van Bergen, Nicole J. ; Sikora, Tim ; Semcesen, Liana N. ; Stroud, David A. ; Compton, Alison G. ; Thorburn, David R. ; Bell, Katrina M. ; Sadedin, Simon ; North, Kathryn N. ; Christodoulou, John ; Stark, Zornitza
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature medicine, 2023-07, Vol.29 (7), p.1681-1691
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    Author / Creator:Pinner, Jason R ; Freckmann, Mary-Louise ; Kirk, Edwin P ; Yoshino, Makoto
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of medical case reports, 2010-11, Vol.4 (1), p.361-361, Article 361
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    Author / Creator:Lee, Eric ; Le, Trang ; Zhu, Ying ; Elakis, George ; Turner, Anne ; Lo, William ; Venselaar, Hanka ; Verrenkamp, Carol-Ann ; Snow, Nicole ; Mowat, David ; Kirk, Edwin Philip ; Sachdev, Rani ; Smith, Janine ; Brown, Natasha Jane ; Wallis, Mathew ; Barnett, Chris ; McKenzie, Fiona ; Freckmann, Mary-Louise ; Collins, Felicity ; Chopra, Maya ; Gregersen, Nerine ; Hayes, Ian ; Rajagopalan, Sulekha ; Tan, Tiong Yang ; Stark, Zornitza ; Savarirayan, Ravi ; Yeung, Alison ; Adès, Lesley ; Gattas, Michael ; Gibson, Kate ; Gabbett, Michael ; Amor, David John ; Lattanzi, Wanda ; Boyd, Simeon ; Haan, Eric ; Gianoutsos, Mark ; Cox, Timothy Chilton ; Buckley, Michael Francis ; Roscioli, Tony
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
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    Author / Creator:Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y ; Silva, Ana P G ; Lee, Hane ; Douine, Emilie D ; Otero, Maria G ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P ; Delgado, Mauricio R ; Hajianpour, M J ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W ; Vergano, Samantha A ; Mahida, Sonal ; Naidu, Sakkubai ; Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta ; Wain, Karen E ; Challman, Thomas D ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D M ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A ; Hurst, Jane ; Fitzpatrick, David R ; Morton, Jenny E V ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I ; Marsh, Eric D ; Nelson, Stanley F ; Martinez, Julian A ; Graham, John M ; Kini, Usha ; Mackay, Joel P ; Pierson, Tyler Mark
    Publisher:New York: Springer Nature
    Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.878-888
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    Author / Creator:Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y. ; Silva, Ana P.G. ; Lee, Hane ; Douine, Emilie D. ; Otero, Maria G. ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P. ; Delgado, Mauricio R. ; Hajianpour, M.J. ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W. ; Vergano, Samantha A. ; Mahida, Sonal ; Naidu, Sakkubai ; Sousa, Ana Berta ; Wain, Karen E. ; Challman, Thomas D. ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J. ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D.M. ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A. ; Hurst, Jane ; Fitzpatrick, David R. ; Morton, Jenny E.V. ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I. ; Marsh, Eric D. ; Nelson, Stanley F. ; Martinez, Julian A. ; Graham, John M. ; Kini, Usha ; Mackay, Joel P. ; Pierson, Tyler Mark
    Publisher:Bethesda: Elsevier Limited
    Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.878-888
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    Author / Creator:Hock, Daniella H. ; Caruana, Nikeisha J. ; Semcesen, Liana N. ; Lake, Nicole J. ; Formosa, Luke E. ; Amarasekera, Sumudu S. C. ; Stait, Tegan ; Tregoning, Simone ; Frajman, Leah E. ; Bournazos, Adam M. ; Robinson, David R. L. ; Ball, Megan ; Reljic, Boris ; Ryder, Bryony ; Wallis, Mathew J. ; Vasudevan, Anand ; Beck, Cara ; Peters, Heidi ; Lee, Joy ; Tan, Natalie B. ; Freckmann, Mary-Louise ; Filipovska, Aleksandra ; Stojanovski, Diana ; Coman, David ; Murray, Sean ; Davis, Ryan L. ; Ghaoui, Roula ; Sallevelt, Suzanne C. E. H. ; Simons, Cas ; Siira, Stefan J. ; Balasubramaniam, Shanti ; MacArthur, Daniel G. ; Elbaum, Yoni ; Atthow, Catherine ; McGrath, Pauline ; Martin, Ellenore M. ; Harris, Madeleine ; Karlaftis, Vasiliki ; Attard, Chantal ; Monagle, Paul ; Samarasinghe, Amanda ; Brown, Rosie ; Bi, Weimin ; Lek, Monkol ; McFarland, Robert ; Taylor, Robert W. ; Ryan, Michael T. ; Cooper, Sandra T. ; Stark, Zornitza ; Christodoulou, John ; Compton, Alison G. ; Thorburn, David R. ; Stroud, David A.
    Publisher:England: BioMed Central Ltd
    Journal title:Genome medicine, 2025-05, Vol.17 (1), p.58-24, Article 58
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    Author / Creator:Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y. ; Silva, Ana P.G. ; Lee, Hane ; Douine, Emilie D. ; Otero, Maria G. ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P. ; Delgado, Mauricio R. ; Hajianpour, M.J. ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W. ; Vergano, Samantha A. ; Mahida, Sonal ; Naidu, Sakkubai ; Sousa, Ana Berta ; Wain, Karen E. ; Challman, Thomas D. ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J. ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D.M. ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A. ; Hurst, Jane ; Fitzpatrick, David R. ; Morton, Jenny E.V. ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I. ; Marsh, Eric D. ; Nelson, Stanley F. ; Martinez, Julian A. ; Graham, John M. ; Kini, Usha ; Mackay, Joel P. ; Pierson, Tyler Mark
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2020-04, Vol.22 (4), p.822-822
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    Author / Creator:Miller, Kerry A ; Ah-Cann, Casey J ; Welfare, Megan F ; Tan, Tiong Y ; Pope, Kate ; Caruana, Georgina ; Freckmann, Mary-Louise ; Savarirayan, Ravi ; Bertram, John F ; Dobbie, Michael S ; Bateman, John F ; Farlie, Peter G
    Publisher:San Francisco: Public Library of Science
    Journal title:PLoS genetics, 2013-08, Vol.9 (8)
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