Sökresultat - Colleen A. Campbell
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Receptor‐mediated endocytosis of <i>Neisseria gonorrhoeae</i> into primary human urethral epithelial cells: the role of the asialoglycoprotein receptor av Hillery A. Harvey, Michael P. Jennings, Colleen A. Campbell, Richard D. Williams, Michael A. Apicella
Publicerad 2001Artigo -
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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases av M. Adela Mansilla, Ramakrishna Sompallae, Carla Nishimura, Anne E. Kwitek, Mycah Kimble, Margaret E. Freese, Colleen A. Campbell, Richard J. Smith, Christie P. Thomas
Publicerad 2019Artigo -
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss av Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, Diana L. Kolbe, Carla Nishimura, Kathy L. Frees, Sean S. Ephraim, Seiji B. Shibata, Kevin T. Booth, Colleen A. Campbell, Paul T. Ranum, Amy E. Weaver, E. Ann Black-Ziegelbein, Donghong Wang, Héla Azaiez, Richard J. Smith
Publicerad 2016Artigo -
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Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder av Liang Zong, Jing Guan, Megan Ealy, Qiujing Zhang, D. Wang, Hongyang Wang, Yali Zhao, Zhirong Shen, Colleen A. Campbell, Fengchao Wang, Ju Dong Yang, Wei Sun, Lan Lan, Dalian Ding, Linyi Xie, Yue Qi, Xin Lou, Xusheng Huang, Qiang Shi, Suhua Chang, Wenping Xiong, Zifang Yin, Ning Yu, Hui Zhao, Jun Wang, Jing Wang, Richard Salvi, Christine Petit, Richard J. Smith, Qiuju Wang
Publicerad 2015Artigo -
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DNM1 encephalopathy: A new disease of vesicle fission. av Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nuñes, Dean Sarco, Richard A. Kaplan, Dennis Dlugos, Heidi E. Kirsch, Anne Slavotinek, Maria Roberta Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Wong Ten Yuen, Yoshimi Sagawa, Rebecca O. Littlejohn, Scott D. McLean, Laura Hernandez‐Hernandez, Bridget H. Maher, Rikke S. Møller, Elizabeth E. Palmer, John A. Lawson, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig
Publicerad 2017Artigo -
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge av Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah Savage, Emily Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph A. Majzoub, Peter Neupert, David P. McCallie, Peter Szolovits, Huntington F. Willard, Nancy J. Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Līvija Medne, Shamil Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul IW de Bakker, Hatice Duzkale, Piotr Dworzyński, William G. Fairbrother, Laurent C. Francioli, Birgit Funke, Monica A. Giovanni, Robert E. Handsaker, Kasper Lage, Matthew S. Lebo, Monkol Lek, Ignaty Leshchiner, Daniel G. MacArthur, Heather M. McLaughlin, Michael F. Murray, Tune H. Pers, Paz Polak, Soumya Raychaudhuri, Heidi L. Rehm, Rachel Soemedi, Nathan O. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, Bernward Klocke, Alexander Hahn, Max Schubach, Mortiz Menzel, Saskia Biskup, Peter Freisinger, Mario C. Deng, Martin Braun, Sven Perner, Richard J. Smith, Janeen L Andorf, Jian Huang, Kelli K. Ryckman, Val C. Sheffield, Edwin M. Stone, Thomas Bair, E. Ann Black-Ziegelbein, Terry A. Braun, Benjamin W. Darbro, Adam P. DeLuca, Diana L. Kolbe, Todd E. Scheetz, A. Eliot Shearer, Rama Sompallae, Kai Wang, Alexander G. Bassuk, Erik Edens, Katherine D. Mathews, Steven A. Moore, Oleg A. Shchelochkov, Pamela Trapane, Aaron Bossler, Colleen A. Campbell, Jonathan W. Heusel, Anne E. Kwitek, Tara Maga, Karin Panzer, Thomas H. Wassink, Douglas J. Van Daele, Héla Azaiez, Kevin T. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter White, Donald J. Corsmeier, Sara Fitzgerald‐Butt, Gail E. Herman, Devon Lamb-Thrush
Publicerad 2014Artigo
Sökverktyg:
Relaterade ämnen
Biology
Gene
Genetics
Medicine
Biochemistry
Genetic testing
Internal medicine
Microbiology
Mutation
Phenotype
Receptor
Asialoglycoprotein receptor
Audiology
Cell biology
DNA sequencing
Epilepsy
Exome sequencing
Genetic counseling
Genome
Hearing loss
Hepatocyte
Human genetics
In vitro
Missense mutation
Antagonist
Antibiotics
Auditory neuropathy
Bacterial adhesin
Best practice
Bioinformatics