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Genetic 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

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

Stephen J. Salipante, Dhruba J. Sengupta, [ ... ], Noah G. Hoffman

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

Dana Willner, Joshua Daly, [ ... ], Philip Hugenholtz

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

Edith T. Zemanick, Brandie D. Wagner, [ ... ], J. Kirk Harris

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, [ ... ], Michal R. Schweiger

Glioblastoma Subclasses Can Be Defined by Activity among Signal Transduction Pathways and Associated Genomic Alterations

Cameron Brennan, Hiroyuki Momota, [ ... ], Eric Holland

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

Dana Willner, Mike Furlan, [ ... ], Forest Rohwer

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

Danielle Ramsey, Mariacristina Scoto, [ ... ], Francesco Muntoni

Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

Claire-Marie Legendre, Catherine Charpentier-Côté, Régen Drouin, Chantal Bouffard

Pseudomonas aeruginosa Population Structure Revisited

Jean-Paul Pirnay, Florence Bilocq, [ ... ], Daniel De Vos

A Locked Nucleic Acid Antisense Oligonucleotide (LNA) Silences PCSK9 and Enhances LDLR Expression In Vitro and In Vivo

Nidhi Gupta, Niels Fisker, [ ... ], Ellen Marie Straarup

Oxytocin and Vasopressin Are Dysregulated in Williams Syndrome, a Genetic Disorder Affecting Social Behavior

Li Dai, C. Sue Carter, [ ... ], Julie R. Korenberg

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

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