학술논문
'학술논문'
에서 검색결과 15건 | 목록
1~10
Periodical
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
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 5 p490-501, 12p
Periodical
Tooze, Rebecca S; Calpena, Eduardo; Twigg, Stephen R F; D’Arco, Felice; Wakeling, Emma L; Wilkie, Andrew O M
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p712-716, 5p
Periodical
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
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 2 p165-169, 5p
Periodical
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
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p895-905, 11p
Academic Journal
Rimmer, Andy; Phan, Hang; Mathieson, Iain; Iqbal, Zamin; Twigg, Stephen R F; Wilkie, Andrew O M; McVean, Gil; Lunter, Gerton
Academic Journal
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
Academic Journal
Goos, Jacqueline A C; Vogel, Walter K; Mlcochova, Hana; Millard, Christopher J; Esfandiari, Elahe; Selman, Wisam H; Calpena, Eduardo; Koelling, Nils; Carpenter, Evan L; Swagemakers, Sigrid M A; Spek, Peter J van der; Filtz, Theresa M; Schwabe, John W R; Iwaniec, Urszula T; Mathijssen, Irene M J; Leid, Mark; Twigg, Stephen R F
Human Molecular Genetics; 8/1/2019, Vol. 28 Issue 15, p2501-2513, 13p
Academic Journal
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
Journal of Medical Genetics. Jan 01, 2018 55(1):28-38
Academic Journal
Davies, Benjamin; Brown, Laurence A; Cais, Ondrej; Watson, Jake; Clayton, Amber J; Chang, Veronica T; Biggs, Daniel; Preece, Christopher; Hernandez-Pliego, Polinka; Krohn, Jon; Bhomra, Amarjit; Twigg, Stephen R F; Rimmer, Andrew; Kanapin, Alexander; Sen, Arjune; Zaiwalla, Zenobia; McVean, Gil; Foster, Russell; Donnelly, Peter; Taylor, Jenny C; Blair, Edward; Nutt, David; Aricescu, Radu A; Greger, Ingo H; Peirson, Stuart N; Flint, Jonathan; Martin, Hilary C
Human Molecular Genetics. Oct 15, 2017 26(20):3869-3882
Periodical
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
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 1 p28-38, 11p
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[AR] Twigg, Stephen R F
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