Resultats de la cerca - Jacques Zaneveld
- Mostrar 1 - 9 resultats de 9
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Utility of patient‐specific silicone renal models for planning and rehearsal of complex tumour resections prior to robot‐assisted laparoscopic partial nephrectomy per Friedrich‐Carl von Rundstedt, Jason M. Scovell, Smriti A. Agrawal, Jacques Zaneveld, Richard E. Link
Publicat 2016Artigo -
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients per Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui
Publicat 2015Artigo -
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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland per Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin E. Willoughby, Jacques Zaneveld, Lichun Jiang, Zachry T. Soens, Philip Earle, David Simpson, Giuliana Silvestri, Rui Chen
Publicat 2014Artigo -
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Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa per Qing Fu, Feng Wang, Hui Wang, Fei Xu, Jacques Zaneveld, Huanan Ren, Vafa Keser, Irma López, Han-Fang Tuan, Jason S. Salvo, Xia Wang, Li Zhao, Keqing Wang, Yumei Li, Robert K. Koenekoop, Rui Chen, Ruifang Sui
Publicat 2013Artigo -
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions per Jacques Zaneveld, Sorath Noorani Siddiqui, Huajin Li, Xia Wang, Hui Wang, Keqing Wang, Hui Li, Huanan Ren, Irma López, Allison Dorfman, Ayesha Khan, Feng Wang, Jason S. Salvo, Violet Gelowani, Yumei Li, Ruifang Sui, Robert K. Koenekoop, Rui Chen
Publicat 2014Artigo -
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TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients per Rafael Bejar, Allegra M. Lord, Kristen E. Stevenson, Michal Bar‐Natan, Albert Pérez-Ladaga, Jacques Zaneveld, Hui Wang, Bennett Adam Caughey, Petar Stojanov, Gad Getz, Guillermo Garcia‐Manero, Hagop M. Kantarjian, Rui Chen, Richard M. Stone, Donna Neuberg, David P. Steensma, Benjamin L. Ebert
Publicat 2014Artigo -
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing per Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma López, Jacques Zaneveld, Sorath Noorani Siddiqui, Stephanie Bowles, Ayesha Khan, Jason S. Salvo, Samuel G. Jacobson, Alessandro Iannaccone, Feng Wang, David G. Birch, John R. Heckenlively, Gerald A. Fishman, Elias I. Traboulsi, Yumei Li, Dianna K. Wheaton, Robert K. Koenekoop, Rui Chen
Publicat 2013Artigo -
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements per Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques Zaneveld, Jason S. Salvo, Sorath Noorani Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma López, Raheel Qamar, Juan Carlos Zenteno, Raúl Ayala-Ramírez, Beatriz Buentello‐Volante, Qing Fu, David Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen
Publicat 2013Artigo
Eines de cerca:
Matèries relacionades
Medicine
Biology
Gene
Genetics
Mutation
Retinitis pigmentosa
Disease
Internal medicine
Allele
Genetic testing
Pathology
Phenotype
Proband
Retinal
Retinal Disorder
ABCA4
Biochemistry
Cohort
Genetic heterogeneity
Genotype
Human genetics
Medical genetics
Sanger sequencing
Stargardt disease
Allele frequency
Azacitidine
Bioinformatics
Bone marrow
Cancer research
DNA methylation