34 results for Twigg,+Stephen+R+F

34 results for Twigg,+Stephen+R+F

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:Farmer, D’Juan T. ; Mlcochova, Hana ; Zhou, Yan ; Koelling, Nils ; Wang, Guanlin ; Ashley, Neil ; Bugacov, Helena ; Chen, Hung-Jhen ; Parvez, Riana ; Tseng, Kuo-Chang ; Merrill, Amy E. ; Maxson, Robert E. ; Wilkie, Andrew O. M. ; Crump, J. Gage ; Twigg, Stephen R. F.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2021-08, Vol.12 (1), p.4797-4797, Article 4797
    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:Rimmer, Andy ; Phan, Hang ; Mathieson, Iain ; Iqbal, Zamin ; Twigg, Stephen R F ; Wilkie, Andrew O M ; McVean, Gil ; Lunter, Gerton
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2014-08, Vol.46 (8), p.912-918
    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:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2013-03, Vol.45 (3), p.304-307
    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:Vogiatzi, Angeliki ; Keklikoglou, Kleoniki ; Makris, Konstantinos ; Argyrou, Dionysia Stamatia ; Zacharopoulos, Athanasios ; Sotiropoulou, Varvara ; Parthenios, Nikolaos ; Gkikas, Angelos ; Kokkori, Maria ; Richardson, Melodie S. W. ; Fenwick, Aimée L. ; Archontidi, Sofia ; Arvanitidis, Christos ; Robertson, Jeremy ; Parthenios, John ; Zacharakis, Giannis ; Twigg, Stephen R. F. ; Wilkie, Andrew O. M. ; Mavrothalassitis, George
    Publisher:Switzerland: MDPI AG
    Journal title:International journal of molecular sciences, 2023-04, Vol.24 (9), p.7961
    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:Hamilton, Mark J ; Caswell, Richard C ; Canham, Natalie ; Cole, Trevor ; Firth, Helen V ; Foulds, Nicola ; Heimdal, Ketil ; Hobson, Emma ; Houge, Gunnar ; Joss, Shelagh ; Kumar, Dhavendra ; Lampe, Anne Katrin ; Maystadt, Isabelle ; McKay, Victoria ; Metcalfe, Kay ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Robert, Leema ; Rustad, Cecilie F ; Wakeling, Emma ; Wilkie, Andrew O M ; Study, The Deciphering Developmental Disorders ; Twigg, Stephen R F ; Suri, Mohnish
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2018-01, Vol.55 (1), p.28-38
    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:Tooze, Rebecca S. ; Calpena, Eduardo ; Weber, Astrid ; Wilson, Louise C. ; Twigg, Stephen R. F. ; Wilkie, Andrew O. M.
    Publisher:Switzerland: MDPI AG
    Journal title:Genes, 2023-02, Vol.14 (3), p.615
    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:Pei, Yang ; Tanguy, Melanie ; Giess, Adam ; Dixit, Abhijit ; Wilson, Louise C. ; Gibbons, Richard J. ; Twigg, Stephen R. F. ; Elgar, Greg ; Wilkie, Andrew O. M.
    Publisher:Switzerland: MDPI AG
    Journal title:Genes, 2024-07, Vol.15 (7), p.925
    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:Stephen R. F. Twigg ; Kan, Rui ; Babbs, Christian ; Bochukova, Elena G. ; Robertson, Stephen P. ; Wall, Steven A. ; Morriss-Kay, Gillian M. ; Andrew O. M. Wilkie ; Weatherall, David
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (23), p.8652-8657
    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:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567
    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:Schwerd, Tobias ; Krause, Freia ; Twigg, Stephen R F ; Aschenbrenner, Dominik ; Chen, Yin-Huai ; Borgmeyer, Uwe ; Müller, Miryam ; Manrique, Santiago ; Schumacher, Neele ; Wall, Steven A ; Jung, Jonathan ; Damm, Timo ; Glüer, Claus-Christian ; Scheller, Jürgen ; Rose-John, Stefan ; Jones, E Yvonne ; Laurence, Arian ; Wilkie, Andrew O M ; Schmidt-Arras, Dirk ; Uhlig, Holm H
    Publisher:China: Springer Nature B.V
    Journal title:Bone research, 2020-06, Vol.8 (1), p.24-24
    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:Miller, Kerry A ; Twigg, Stephen R F ; McGowan, Simon J ; Phipps, Julie M ; Fenwick, Aimée L ; Johnson, David ; Wall, Steven A ; Noons, Peter ; Rees, Katie E M ; Tidey, Elizabeth A ; Craft, Judith ; Taylor, John ; Taylor, Jenny C ; Goos, Jacqueline A C ; Swagemakers, Sigrid M A ; Mathijssen, Irene M J ; van der Spek, Peter J ; Lord, Helen ; Lester, Tracy ; Abid, Noina ; Cilliers, Deirdre ; Hurst, Jane A ; Morton, Jenny E V ; Sweeney, Elizabeth ; Weber, Astrid ; Wilson, Louise C ; Wilkie, Andrew O M
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2017-04, Vol.54 (4), p.260-268
    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:Vasudevan, Pradeep C ; Twigg, Stephen R F ; Mulliken, John B ; Cook, Jackie A ; Quarrell, Oliver W J ; Wilkie, Andrew O M
    Publisher:Cham: Springer International Publishing
    Journal title:European journal of human genetics : EJHG, 2006-07, Vol.14 (7), p.884-887
    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:Romanelli Tavares, Vanessa Luiza ; Guimarães-Ramos, Sofia Ligia ; Zhou, Yan ; Masotti, Cibele ; Ezquina, Suzana ; Moreira, Danielle de Paula ; Buermans, Henk ; Freitas, Renato S ; Den Dunnen, Johan T ; Twigg, Stephen R F ; Passos-Bueno, Maria Rita
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-09, Vol.59 (9), p.895-905
    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:Miller, Kerry A ; Cruz Walma, David A ; Pinkas, Daniel M ; Tooze, Rebecca S ; Bufton, Joshua C ; Richardson, William ; Manning, Charlotte E ; Hunt, Alice E ; Cros, Julien ; Hartill, Verity ; Parker, Michael J ; McGowan, Simon J ; Twigg, Stephen R F ; Chalk, Rod ; Staunton, David ; Johnson, David ; Wilkie, Andrew O M ; Bullock, Alex N
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2024-05, Vol.61 (5), p.490-501
    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:Babbs, Christian ; Heller, Raoul ; Everman, David B. ; Crocker, Mark ; Twigg, Stephen R. F. ; Schwartz, Charles E. ; Giele, Henk ; Wilkie, Andrew O. M.
    Publisher:Heidelberg: Springer
    Journal title:Human genetics, 2007-09, Vol.122 (2), p.191-199
    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:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
    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:Twigg, Stephen R F ; Vorgia, Elena ; McGowan, Simon J ; Peraki, Ioanna ; Fenwick, Aimée L ; Sharma, Vikram P ; Allegra, Maryline ; Zaragkoulias, Andreas ; Akha, Elham Sadighi ; Knight, Samantha J L ; Lord, Helen ; Lester, Tracy ; Izatt, Louise ; Lampe, Anne K ; Mohammed, Shehla N ; Stewart, Fiona J ; Verloes, Alain ; Wilson, Louise C ; Healy, Chris ; Sharpe, Paul T ; Hammond, Peter ; Hughes, Jim ; Taylor, Stephen ; Johnson, David ; Wall, Steven A ; Mavrothalassitis, George ; Wilkie, Andrew O M
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2013-03, Vol.45 (3), p.308-313
    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:Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J ; Atique, Rodrigo ; Bertola, Débora R ; Cunningham, Michael L ; Gustafson, Jonas A ; Johnson, David ; Morton, Jenny E V ; Passos-Bueno, Maria Rita ; Timberlake, Andrew T ; Lifton, Richard P ; Wall, Steven A ; Twigg, Stephen R F ; Maire, Pascal ; Wilkie, Andrew O M
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-02, Vol.59 (2), p.165-169
    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:Tooze, Rebecca S ; Calpena, Eduardo ; Twigg, Stephen R F ; D’Arco, Felice ; Wakeling, Emma L ; Wilkie, Andrew O M ; Ambrose, J C ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, CR ; Brittain, H ; Brown, M A ; Caulfield, M J ; Chan, G C ; Giess, A ; Griffin, J N ; Hamblin, A ; Henderson, S ; Hubbard, T J P ; Jackson, R ; Jones, L J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, S E ; Leong, I U S ; Lopez, F J ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Mitchell, J ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A C ; O‘Donovan, P ; Odhams, C A ; Patch, C ; Perez-Gil, D ; Pereira, M B ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, R H ; Siddiq, A ; Sieghart, A ; Smith, S C ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, A L ; Thomas, E R A ; Thompson, S R ; Tucci, A ; Welland, M J ; Williams, E ; Witkowska, K ; Wood, S M ; Zarowiecki, M
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2023-07, Vol.60 (7), p.712-716
    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:Babbs, Christian ; Lloyd, Deborah ; Pagnamenta, Alistair T ; Twigg, Stephen R F ; Green, Joanne ; McGowan, Simon J ; Mirza, Ghazala ; Naples, Rebecca ; Sharma, Vikram P ; Volpi, Emanuela V ; Buckle, Veronica J ; Wall, Steven A ; Knight, Samantha J L ; Parr, Jeremy R ; Wilkie, Andrew O M
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2014-11, Vol.51 (11), p.737-747
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 1 to 20 of 34 results