학술논문
'학술논문'
에서 검색결과 52건 | 목록
1~10
Electronic Resource
Justice, CM; Justice, CM; Cuellar, A; Bala, K; Sabourin, JA; Cunningham, ML; Crawford, K; Phipps, JM; Zhou, Y; Cilliers, D; Byren, JC; Johnson, D; Wall, SA; Morton, JEV; Noons, P; Sweeney, E; Weber, A; Rees, KEM; Wilson, LC; Simeonov, E; Kaneva, R; Yaneva, N; Georgiev, K; Bussarsky, A; Senders, C; Zwienenberg, M; Boggan, J; Roscioli, T; Tamburrini, G; Barba, M; Conway, K; Sheffield, VC; Brody, L; Mills, JL; Kay, D; Sicko, RJ; Langlois, PH; Tittle, RK; Botto, LD; Jenkins, MM; LaSalle, JM; Lattanzi, W; Wilkie, AOM; Wilson, AF; Romitti, PA; Boyadjiev, SA
Human Genetics; vol 139, iss 8, 1077-1090; 0340-6717
Electronic Resource
Calpena, E; Cuellar, A; Bala, K; Swagemakers, Sigrid; Koelling, N; McGowan, SJ; Phipps, JM; Balasubramanian, M; Cunningham, ML; Douzgou, S; Lattanzi, W; Morton, JEV; Shears, D; Weber, A; Wilson, LC; Lord, H; Lester, T; Johnson, D; Wall, SA; Twigg, SRF; Mathijssen, Irene; Boardman-Pretty, F; Boyadjiev, SA; Wilkie, AOM
Calpena , E , Cuellar , A , Bala , K , Swagemakers , S , Koelling , N , McGowan , SJ , Phipps , JM , Balasubramanian , M , Cunningham , ML , Douzgou , S , Lattanzi , W , Morton , JEV , Shears , D , Weber , A , Wilson , LC , Lord , H , Lester , T , Johnson , D , Wall , SA , Twigg , SRF , Mathijssen , I , Boardman-Pretty , F , Boyadjiev , SA & Wilkie , AOM 2020 , ' SMAD6 variants in craniosynostosis: genotype and phenotype evaluation ' , Genetics in Medicine , vol. 22 , no. 9 , pp. 1498-1506 .
Academic Journal
Journal of Craniofacial Surgery; Mar2002, Vol. 13 Issue 2, p311-314, 4p
Academic Journal
Moloney, DM; Wall, SA; Ashworth, GJ; Oldridge, M.; Glass, IA; Francomano, CA; Muenke, M.; Wilkie, Aom
The Lancet. April 12, 1997, Vol. 349 Issue 9058, p1059, 4 p.
Electronic Resource
Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Deciphering Developmental Disorders Study; Baralle, D; Blair, EM; Engels, H; Lüdecke, H-J; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, MF; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, PJ; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, SMA; Douzgou, S; Wall, SA; Küry, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, IMJ; Nellaker, C; Brunner, HG; Wilkie, AOM
Electronic Resource
Reijnders, M R F; Miller, KA; Alvi, M; Goos, Jacqueline; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Baralle, D; Blair, EM; Engels, H; Ludecke, HJ; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, Marieke; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, Peter; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, Sigrid; Douzgou, S; Wall, SA; Kury, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, Irene; Nellaker, C; Brunner, HG; Wilkie, AOM
Reijnders , M R F , Miller , KA , Alvi , M , Goos , J , Lees , MM , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , BBA , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , CAL , Wieczorek , D , Baralle , D , Blair , EM , Engels , H , Ludecke , HJ , Eason , J , Santen , GWE , Clayton-Smith , J , Chandler , K , Tatton-Brown , K , Payne , K , Helbig , K , Radtke , K , Nugent , KM , Cremer , K , Strom , TM , Bird , LM , Sinnema , M , Bitner-Glindzicz , M , van Dooren , M , Alders , M , Koopmans , M , Brick , L , Kozenko , M , Harline , ML , Klaassens , M , Steinraths , M , Cooper , NS , Edery , P , Yap , P , Terhal , PA , van der Spek , P , Lakeman , P , Taylor , RL , Littlejohn , RO , Pfundt , R , Mercimek-Andrews , S , Stegmann , APA , Kant , SG , McLean , S , Joss , S , Swagemakers , S , Douzgou , S , Wall , SA , Kury , S , Calpena , E , Koelling , N , McGowan , SJ , Twigg , SRF , Mathijssen , I , Nellaker , C , Brunner , HG & Wilkie , AOM 2018 , ' De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder ' , American Journal of Human Genetics , vol. 102 , no. 6 , pp. 1195-1203 .
Electronic Resource
Schwerd, T; Twigg, SRF; Aschenbrenner, D; Manrique, S; Miller, KA; Taylor, IB; Capitani, M; McGowan, SJ; Sweeney, E; Weber, A; Chen, L; Bowness, P; Riordan, A; Cant, A; Freeman, AF; Milner, JD; Holland, SM; Frede, N; Müller, M; Schmidt-Arras, D; Grimbacher, B; Wall, SA; Jones, EY; Wilkie, AOM; Uhlig, HH
Electronic Resource
Miller, KA; Twigg, SRF; McGowan, SJ; Phipps, JM; Fenwick, AL; Johnson, D; Wall, SA; Noons, P; Rees, KEM; Tidey, EA; Craft, J; Taylor, J; Taylor, JC; Goos, JAC; Swagemakers, SMA; Mathijssen, IMJ; van der Spek, PJ; Lord, H; Lester, T; Abid, N; Cilliers, D; Hurst, JA; Morton, JEV; Sweeney, E; Weber, A; Wilson, LC; Wilkie, AOM
Electronic Resource
Goos, Jacqueline; Fenwick, AL; Swagemakers, Sigrid; McGowan, SJ; Knight, SJL; Twigg, SRF; Hoogeboom, Jeannette; van Dooren, Marieke; Magielsen, Frank; Wall, SA; Mathijssen, Irene; Wilkie, AOM; van der Spek, Peter; van den Ouweland, Ans
Goos , J , Fenwick , AL , Swagemakers , S , McGowan , SJ , Knight , SJL , Twigg , SRF , Hoogeboom , J , van Dooren , M , Magielsen , F , Wall , SA , Mathijssen , I , Wilkie , AOM , van der Spek , P & van den Ouweland , A 2016 , ' Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis ' , Human Mutation , vol. 37 , no. 8 , pp. 732-736 .
Electronic Resource
Twigg, SRF; Forecki, J; Goos, Jacqueline; Richardson, ICA; Hoogeboom, Jeannette; van den Ouweland, Ans; Swagemakers, Sigrid; Lequin, MH; Van Antwerp, D; McGowan, SJ; Westbury, I; Miller, KA; Wall, SA; van der Spek, Peter; Mathijssen, Irene; Pauws, E; Merzdorf, CS; Wilkie, AOM
Twigg , SRF , Forecki , J , Goos , J , Richardson , ICA , Hoogeboom , J , van den Ouweland , A , Swagemakers , S , Lequin , MH , Van Antwerp , D , McGowan , SJ , Westbury , I , Miller , KA , Wall , SA , van der Spek , P , Mathijssen , I , Pauws , E , Merzdorf , CS & Wilkie , AOM 2015 , ' Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability ' , American Journal of Human Genetics , vol. 97 , no. 3 , pp. 378-388 .
검색 결과 제한하기
제한된 항목
[AR] Wall, SA
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어