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Nasopharyngeal Carriage of Pneumococcus in Children in England up to 10 Years After 13-Valent Pneumococcal Conjugate Vaccine Introduction: Persistence of Serotypes 3 and 19A and Emergence of 7C 引入13价肺炎球菌结合疫苗后长达10年的英格兰儿童肺炎球菌的鼻咽运输: 血清型3和19A的持久性和7C的出现 Tiley, Karen S.; Ratcliffe, Helen; Voysey, Merryn; Jefferies, Kimberley; Sinclair, Gemma; Carr, Melanie; Colin-Jones, Rachel; Smith, David; Bowman, Jaclyn; Hart, Thomas; Kandasamy, Rama; Hinds, Jason; Gould, Katherine; Berbers, Guy; Tcherniaeva, Irina; Robinson, Hannah; Plested, Emma; Aley, Parvinder; Snape, Matthew D. 分享 收藏
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Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 Bleyer, Anthony J.; Kmoch, Stanislav; Antignac, Corinne; Robins, Vicki; Kidd, Kendrah; Kelsoe, John R.; Hladik, Gerald; Klemmer, Philip; Knohl, Stephen J.; Scheinman, Steven J.; Nam Vo; Santi, Ann; Harris, Alese; Canaday, Omar; Weller, Nelson; Hulick, Peter J.; Vogel, Kristen; Rahbari-Oskoui, Frederick F.; Tuazon, Jennifer; Deltas, Constantinos; Somers, Douglas; Megarbane, Andre; Kimmel, Paul L.; Sperati, C. John; Orr-Urtreger, Avi; Ben-Shachar, Shay; Waugh, David A.; McGinn, Stella; Bleyer, Anthony J., Jr.; Hodanova, Katerina; Vylet'al, Petr; Zivna, Martina; Hart, Thomas C.; Hart, P. Suzanne 分享 收藏
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Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure Zivna, Martina; Hulkova, Helena; Matignon, Marie; Hodanova, Katerina; Vylet'al, Petr; Kalbacova, Marie; Baresova, Veronika; Sikora, Jakub; Blazkova, Hana; Zivny, Jan; Ivanek, Robert; Stranecky, Viktor; Sovova, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P. Suzanne; Hart, Thomas C.; Adams, Jeremy N.; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Guebler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J.; Kmoch, Stanislav 分享 收藏
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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P Pdgf-c调控区SNP rs28999109降低启动子转录活性并与CL/P相关 Choi, Sun J.; Marazita, Mary L.; Hart, P. Suzanne; Sulima, Pawel P.; Field, L. Leigh; McHenry, Toby Goldstein; Govil, Manika; Cooper, Margaret E.; Letra, Ariadne; Menezes, Renato; Narayanan, Somnya; Mansilla, Maria Adela; Granjeiro, Jose M.; Vieira, Alexandre R.; Lidral, Andrew C.; Murray, Jeffrey C.; Hart, Thomas C. 分享 收藏
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A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features Dumitrescu, C. E.; Kelly, M. H.; Khosravi, A.; Hart, T. C.; Brahim, J.; White, K. E.; Farrow, E. G.; Nathan, M. H.; Murphey, M. D.; Collins, M. T. 分享 收藏
Phenotype and course of Hutchinson-Gilford progeria syndrome Merideth, Melissa A.; Gordon, Leslie B.; Clauss, Sarah; Sachdev, Vandana; Smith, Ann C. M.; Perry, Monique B.; Brewer, Carmen C.; Zalewski, Christopher; Kim, H. Jeffrey; Solomon, Beth; Brooks, Brian P.; Gerber, Lynn H.; Turner, Maria L.; Domingo, Demetrio L.; Hart, Thomas C.; Graf, Jennifer; Reynolds, James C.; Gropman, Andrea; Yanovski, Jack A.; Gerhard-Herman, Marie; Collins, Francis S.; Nabel, Elizabeth G.; Cannon, Richard O., III; Gahl, William A.; Introne, Wendy J. 分享 收藏
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