未登录 FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing Clark, Robin Dawn; Graham, John M., Jr.; Friez, Michael J.; Hoo, Joe J.; Jones, Kenneth Lyons; McKeown, Carole; Moeschler, John B.; Raymond, F. Lucy; Rogers, R. Curtis; Schwartz, Charles E.; Battaglia, Agatino; Lyons, Michael J.; Stevenson, Roger E. 分享 收藏
PPIB Mutations Cause Severe Osteogenesis Imperfecta van Dijk, Fleur S.; Nesbitt, Isabel M.; Zwikstra, Eline H.; Nikkels, Peter G. J.; Piersma, Sander R.; Fratantoni, Silvina A.; Jimenez, Connie R.; Huizer, Margriet; Morsman, Alice C.; Cobben, Jan M.; van Roij, Miriam H. H.; Elting, Mariet W.; Verbeke, Jonathan I. M. L.; Wijnaendts, Liliane C. D.; Shaw, Nick J.; Hoegler, Wolfgang; McKeown, Carole; Sistermans, Erik A.; Dalton, Ann; Meijers-Heijboer, Hanne; Pals, Gerard 分享 收藏
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat Smith, UM; Consugar, M; Tee, LJ; McKee, BM; Maina, EN; Whelan, S; Morgan, NV; Goranson, E; Gissen, P; Lilliquist, S; Aligianis, IA; Ward, CJ; Pasha, S; Punyashthiti, R; Sharif, SM; Batman, PA; Bennett, CP; Woods, CG; McKeown, C; Bucourt, M; Miller, CA; Cox, P; Algazali, L; Trembath, RC; Torres, VE; Attie-Bitach, T; Kelly, DA; Maher, ER; Gattone, VH; Harris, PC; Johnson, CA 分享 收藏
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) Morgan, NV; Pasha, S; Johnson, CA; Ainsworth, JR; Eady, RAJ; Dawood, B; McKeown, C; Trembath, RC; Wilde, J; Watson, SP; Maher, ER 分享 收藏
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation White, KE; Cabral, JM; Davis, SI; Fishburn, T; Evans, WE; Ichikawa, S; Fields, J; Yu, XJ; Shaw, NJ; McLellan, NJ; McKeown, C; FitzPatrick, D; Yu, K; Ornitz, DM; Econs, MJ 分享 收藏
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene Hagan, DM; Ross, AJ; Strachan, T; Lynch, SA; Ruiz-Perez, V; Wang, YM; Scambler, P; Custard, E; Reardon, W; Hassan, S; Muenke, M; Nixon, P; Papapetrou, C; Winter, RM; Edwards, Y; Morrison, K; Barrow, M; Cordier-Alex, MP; Correia, P; Galvin-Parton, PA; Gaskill, S; Gaskin, KJ; Garcia-Minaur, S; Gereige, R; Hayward, R; Homfray, T; McKeown, C; Murday, V; Plauchu, H; Shannon, N; Spitz, L; Lindsay, S 分享 收藏
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis Bulman, MP; Kusumi, K; Frayling, TM; McKeown, C; Garrett, C; Lander, ES; Krumlauf, R; Hattersley, AT; Ellard, S; Turnpenny, PD 分享 收藏
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study 与间质染色体22q11缺失相关的临床特征谱: 一项欧洲合作研究 Ryan, AK; Goodship, JA; Wilson, DI; Philip, N; Levy, A; Seidel, H; Schuffenhauer, S; Oechsler, H; Belohradsky, B; Prieur, M; Aurias, A; Raymond, FL; ClaytonSmith, J; Hatchwell, E; McKeown, C; Beemer, FA; Dallapiccola, B; Novelli, G; Hurst, JA; Ignatius, J; Green, AJ; Winter, RM; Brueton, L; BrondumNielsen, K; Stewart, F; VanEssen, T; Patton, M; Paterson, J; Scambler, PJ 分享 收藏
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract Goodman, FR; Mundlos, S; Muragaki, Y; Donnai, D; GiovannucciUzielli, ML; Lapi, E; Majewski, F; McGaughran, J; McKeown, C; Reardon, W; Upton, J; Winter, RM; Olsen, BR; Schambler, PJ 分享 收藏
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