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Mutation

Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood

Yini Wang, Zhao Wang, [ ... ], Ling Ye

Sensitization of TRPA1 by Protein Kinase A

Jannis E. Meents, Michael J. M. Fischer, Peter A. McNaughton

Superior Multiplexing Capacity of PlexPrimers Enables Sensitive and Specific Detection of SNPs and Clustered Mutations in qPCR

Lit Yeen Tan, Samantha Michelle Walker, [ ... ], Elisa Mokany

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

Renske I. Wadman, Marloes Stam, [ ... ], W. Ludo van der Pol

Molecular and epidemiological characterization of carbapenemase-producing Enterobacteriaceae in Norway, 2007 to 2014

Ørjan Samuelsen, Søren Overballe-Petersen, [ ... ], on behalf of The Norwegian Study Group on CPE

Bacterial-Epithelial Contact Is a Key Determinant of Host Innate Immune Responses to Enteropathogenic and Enteroaggregative Escherichia coli

Lindsey A. Edwards, Mona Bajaj-Elliott, [ ... ], Alan D. Phillips

Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Carolina Cavaliéri Gomes, Marina Gonçalves Diniz, [ ... ], Ricardo Santiago Gomez

DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

Azhari Aziz, Sean P. Harrop, Naomi E. Bishop

Characterization of the MeCP2^R168X Knockin Mouse Model for Rett Syndrome

Eike Wegener, Cornelia Brendel, [ ... ], Peter Huppke

Inactivation of the Ecs ABC Transporter of Staphylococcus aureus Attenuates Virulence by Altering Composition and Function of Bacterial Wall

Ing-Marie Jonsson, Jarmo T. Juuti, [ ... ], Vesa P. Kontinen

The Epidermal Growth Factor Receptor (EGFR / HER-1) Gatekeeper Mutation T790M Is Present in European Patients with Early Breast Cancer

Vahid Bemanian, Torill Sauer, [ ... ], Jürgen Geisler

Massively Parallel Sequencing Reveals an Accumulation of De Novo Mutations and an Activating Mutation of LPAR1 in a Patient with Metastatic Neuroblastoma

Jun S. Wei, Peter Johansson, [ ... ], Javed Khan

STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

Sanne P. Smeekens, Theo S. Plantinga, [ ... ], Mihai G. Netea

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