학술논문
'학술논문'
에서 검색결과 57건 | 목록
1~10
Academic Journal
Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J; Friedman, Jan M; Gutmann, David H; Kehrer-Sawatzki, Hildegard; Korf, Bruce R; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A; Tadini, Gianluca; Ullrich, Nicole J; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M; Evans, D Gareth; Plotkin, Scott R
Genetics in Medicine. 23(8)
Academic Journal
Rauen, Katherine A; Alsaegh, Abeer; Ben‐Shachar, Shay; Berman, Yemima; Blakeley, Jaishri; Cordeiro, Isabel; Elgersma, Ype; Evans, D Gareth; Fisher, Michael J; Frayling, Ian M; George, Joshi; Huson, Susan M; Kerr, Bronwyn; Khire, Uday; Korf, Bruce; Legius, Eric; Messiaen, Ludwine; van Minkelen, Rick; Nampoothiri, Sheela; Ngeow, Joanne; Parada, Luis F; Phadke, Shubha; Pillai, Ashok; Plotkin, Scott R; Puri, Ratna; Raji, Anup; Ramesh, Vijaya; Ratner, Nancy; Shankar, Suma P; Sharda, Sheetal; Tambe, Anant; Vikkula, Miikka; Widemann, Brigitte C; Wolkenstein, Pierre; Upadhyaya, Meena
American Journal of Medical Genetics Part A. 179(6)
Academic Journal
Ben-Shachar, Shay; Constantini, Shlomi; Hallevi, Hen; Sach, Emma K; Upadhyaya, Meena; Evans, Gareth D; Huson, Susan M
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Academic Journal
Lindhurst, Marjorie J; Parker, Victoria E R; Payne, Felicity; Sapp, Julie C; Rudge, Simon; Harris, Julie; Witkowski, Alison M; Zhang, Qifeng; Groeneveld, Matthijs P; Scott, Carol E; Daly, Allan; Huson, Susan M; Tosi, Laura L; Cunningham, Michael L; Darling, Thomas N; Geer, Joseph; Gucev, Zoran; Sutton, V Reid; Tziotzios, Christos; Dixon, Adrian K
Academic Journal
Evans, D Gareth R; O'Hara, Catherine; Wilding, Anna; Ingham, Sarah L; Howard, Elizabeth; Dawson, John; Moran, Anthony; Scott-Kitching, Vilka; Holt, Felicity; Huson, Susan M
Academic Journal
Academic Journal
Hexter, Adam; Jones, Adrian; Joe, Harry; Heap, Laura; Smith, Miriam J; Wallace, Andrew J; Halliday, Dorothy; Parry, Allyson; Taylor, Amy; Raymond, Lucy; Shaw, Adam; Afridi, Shazia; Obholzer, Rupert; Axon, Patrick; King, Andrew T; Friedman, Jan M; Evans, D Gareth R; Burnet, Neil; Donnelly, Neil; Durie-Gair, Juliette; English, Martin; Folland, Nicola; Foweraker, Karen; Harris, Fiona; Harris, Frances; Heney, David; Jeffries, Sarah; Jena, Raj; Knight, Richard; Lamb, Tamara; Macfarlane, Robert; Mannion, Richard; Nicholson, James; Price, Richard; Rands, Ella; Sanghera, Paul; Scoffings, Daniel; Tysome, James; Ferner, Rosalie E; Hammond, Chris; Lascelles, Karine; Nunn, Terry; Saeed, Shakeel; Swampillai, Angela; Thomson, Suki; Walsh, Daniel; Williams, Victoria; Wood, Sue; Anup, Raji; Duff, Chris; Evans, D Gareth; Freeman, Simon R; Howie, Emma; Huson, Susan M; Jarvis, Nicola; Kamaly-Asi, Ian; King, Andrew; Kellett, Mark; Kilday, John-Paul; Lloyd, Simon K; Malluci, Connor; Mawman, Deborah; McBain, Catherine; Mills, Sam; OʼDriscoll, Martin; Patel, Sonia; Perry, Mary; Rutherford, Scott A; Scott-Kitching, Vilka; Stivaros, Stavros M; Thomas, Owen; Vassallo, Grace; Ward, Charlotte L; Blesing, Claire; Cogswell, Lucy; Dalton, Louise; Dodridge, Caroline; Elston, John; Giele, Henk; Hanemann, C Oliver; Howard, Wendy; Johnson, David; Kerr, Richard; Laws, Avianna; Lee, James; Mace, Elle; May, Anne; Milford, Chris; Pretorius, Peter; Ramsden, James; Redman, Caroline; Warner, Nicola; Wilson, Shaun
Journal of Medical Genetics. Oct 01, 2015 52(10):699-705
Academic Journal
Lehtonen, Annukka; Garg, Shruti; Roberts, Stephen A; Trump, Dorothy; Evans, D Gareth; Green, Jonathan; Huson, Susan M
Developmental Medicine & Child Neurology. Jul 01, 2015 57(7):645-651
Academic Journal
Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A; Stadnik, Paulina; Joseph, Agnel P; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M; Jacques, Thomas; James, Gregory; Kondolf, Hannah; Kangesu, Loshan; Keppler-Noreuil, Kim M
Archives of Disease in Childhood. Oct, 2017, Vol. 102 Issue 10
Periodical
Wright, Emma MM Burkitt; Sach, Emma; Sharif, Saba; Quarrell, Oliver; Carroll, Thomas; Whitehouse, Richard W; Upadhyaya, Meena; Huson, Susan M; Evans, D Gareth R
Journal of Medical Genetics. Sept 2013, Vol. 50 Issue 9, p606, 8 p.
검색 결과 제한하기
제한된 항목
[AR] Huson, Susan M
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어