학술논문
'학술논문'
에서 검색결과 125건 | 목록
1~10
Academic Journal
Beleza-Meireles, Ana; Hart, Rachel; Clayton-Smith, Jill; Oliveira, Renata; Reis, Cláudia Falcão; Venâncio, Margarida; Ramos, Fabiana; Sá, Joaquim; Ramos, Lina; Cunha, Elizabete; Pires, Luís Miguel; Carreira, Isabel Marques; Scholey, Rachel; Wright, Ronnie; Urquhart, Jill E.; Briggs, Tracy A.; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Donnai, Dian; Newman, William G.; Saraiva, Jorge Manuel; Tassabehji, May
In European Journal of Medical Genetics September 2015 58(9):455-465
Academic Journal
Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad YV; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Consortium, Care4Rare Canada; Consortium, Genomics England Research; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger
American Journal of Human Genetics. 108(6)
Academic Journal
Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; Mcgowan, Simon; Sims, David; Mcentagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; Mccann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H.; Genomics England Res Consortium
Academic Journal
eBook
Oxford Textbook of Public Health Palliative Care.
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Academic Journal
Li, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffaul, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M.M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M.J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K.L.I.; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang- Jiao
Journal of Clinical Investigation. March, 2020, Vol. 130 Issue 3, p1431, 15 p.
Academic Journal
Daker‐White, Gavin; Kingston, Helen; Payne, Katherine; Greenfield, Julie; Ealing, John; Sanders, Caroline
Academic Journal
Lin Li; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M. M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M. J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang
Academic Journal
Banka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J; Crow, Yanick J; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P M; Donnelly, Deirdre E; Berland, Siren; Houge, Gunnar; Morton, Jenny E; Oley, Christine
Academic Journal
Dunlop, Elaine A.; Dodd, Kayleigh M.; Land, Stephen C.; Davies, Peter A.; Martins, Nicole; Stuart, Helen; McKee, Shane; Kingswood, Chris; Saggar, Anand; Corderio, Isabel; Medeira, Ana Maria Duarte; Kingston, Helen; Sampson, Julian R.; Davies, David Mark; Tee, Andrew R.
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[AR] Kingston, Helen
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