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Mutation detection

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, [ ... ], Masaki Yasukawa

The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, [ ... ], Raz Somech

FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy

Lucie C. Kompier, Irene Lurkin, [ ... ], Ellen C. Zwarthoff

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, [ ... ], Philippe Froguel

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

Mari Carmen Gil Borlado, David Moreno Lastres, [ ... ], Cristina Ugalde

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

Michael V. Zaragoza, Joseph Fass, [ ... ], Eloisa Arbustini

JAK2 Exon 14 Deletion in Patients with Chronic Myeloproliferative Neoplasms

Wanlong Ma, Hagop Kantarjian, [ ... ], Maher Albitar

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Aurelia Santoro, Valentina Balbi, [ ... ], Claudio Franceschi

Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Juan Rodriguez-Paris, Lynn Pique, [ ... ], Iris Schrijver

Molecular Ecology of Pyrethroid Knockdown Resistance in Culex pipiens pallens Mosquitoes

Lin Chen, Daibin Zhong, [ ... ], Guiyun Yan

Whole-Genome Sequencing Reveals Distinct Mutational Patterns in Closely Related Laboratory and Naturally Propagated Francisella tularensis Strains

Andreas Sjödin, Kerstin Svensson, [ ... ], Pär Larsson

Dynamics of HIV-1 Quasispecies during Antiviral Treatment Dissected Using Ultra-Deep Pyrosequencing

Charlotte Hedskog, Mattias Mild, [ ... ], Jan Albert

UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

Michael L. Nickerson, Brittany N. Kostiha, [ ... ], Jayne S. Weiss

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