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Autosomal recessive diseases

Temperature-Dependent Sex Determination in Fish Revisited: Prevalence, a Single Sex Ratio Response Pattern, and Possible Effects of Climate Change

Natalia Ospina-Álvarez, Francesc Piferrer

published 30 Jul 2008

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Rapid 16S rRNA Next-Generation Sequencing of Polymicrobial Clinical Samples for Diagnosis of Complex Bacterial Infections

Stephen J. Salipante, Dhruba J. Sengupta, Christopher Rosenthal, Gina Costa, Jessica Spangler, Elizabeth H. Sims, Michael A. Jacobs, Samuel I. Miller, Daniel R. Hoogestraat, Brad T. Cookson, Connor McCoy, Frederick A. Matsen, Jay Shendure, Clarence C. Lee, Timothy T. Harkins, Noah G. Hoffman

published 29 May 2013

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Comparison of DNA Extraction Methods for Microbial Community Profiling with an Application to Pediatric Bronchoalveolar Lavage Samples

Dana Willner, Joshua Daly, David Whiley, Keith Grimwood, Claire E. Wainwright, Philip Hugenholtz

published 13 Apr 2012

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Reliability of Quantitative Real-Time PCR for Bacterial Detection in Cystic Fibrosis Airway Specimens

Edith T. Zemanick, Brandie D. Wagner, Scott D. Sagel, Mark J. Stevens, Frank J. Accurso, J. Kirk Harris

published 30 Nov 2010

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Metagenomic Analysis of Respiratory Tract DNA Viral Communities in Cystic Fibrosis and Non-Cystic Fibrosis Individuals

Dana Willner, Mike Furlan, Matthew Haynes, Robert Schmieder, Florent E. Angly, Joas Silva, Sassan Tammadoni, Bahador Nosrat, Douglas Conrad, Forest Rohwer

published 09 Oct 2009

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Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S. Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M. Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T. Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni

published 21 Feb 2017

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Pseudomonas aeruginosa Population Structure Revisited

Jean-Paul Pirnay, Florence Bilocq, Bruno Pot, Pierre Cornelis, Martin Zizi, Johan Van Eldere, Pieter Deschaght, Mario Vaneechoutte, Serge Jennes, Tyrone Pitt, Daniel De Vos

published 13 Nov 2009

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Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU

Katherine E. Durrer, Michael S. Allen, Ione Hunt von Herbing

published 17 May 2017

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Chronic Hyper-Hemolysis in Sickle Cell Anemia: Association of Vascular Complications and Mortality with Less Frequent Vasoocclusive Pain

James G. Taylor VI, Vikki G. Nolan, Laurel Mendelsohn, Gregory J. Kato, Mark T. Gladwin, Martin H. Steinberg

published 07 May 2008

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Effect of Temperature on Cystic Fibrosis Lung Disease and Infections: A Replicated Cohort Study

Joseph M. Collaco, John McGready, Deanna M. Green, Kathleen M. Naughton, Christopher P. Watson, Timothy Shields, Scott C. Bell, Claire E. Wainwright, for the ACFBAL Study Group, Garry R. Cutting 3

published 18 Nov 2011

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Neutrophil Extracellular Trap (NET)-Mediated Killing of Pseudomonas aeruginosa: Evidence of Acquired Resistance within the CF Airway, Independent of CFTR

Robert L. Young, Kenneth C. Malcolm, Jennifer E. Kret, Silvia M. Caceres, Katie R. Poch, David P. Nichols, Jennifer L. Taylor-Cousar, Milene T. Saavedra, Scott H. Randell, Michael L. Vasil, Jane L. Burns, Samuel M. Moskowitz, Jerry A. Nick

published 01 Sep 2011

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Complete Blood Count Reference Intervals for Healthy Han Chinese Adults

Xinzhong Wu, Min Zhao, Baishen Pan, Jie Zhang, Mingting Peng, Lanlan Wang, Xiaoke Hao, Xianzhang Huang, Runqing Mu, Wei Guo, Rui Qiao, Wenxiang Chen, Hong Jiang, Yueyun Ma, Hong Shang

published 13 Mar 2015

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The Dynamics of Disease Progression in Cystic Fibrosis

Frederick R. Adler, Theodore G. Liou

published 01 Jun 2016

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