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Mutation

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, [ ... ], Tao Wang

High Prevalence of the K65R Mutation in HIV-1 Subtype C Infected Patients Failing Tenofovir-Based First-Line Regimens in South Africa

Lindiwe Skhosana, Kim Steegen, [ ... ], Wendy S. Stevens

Single Site Suppressors of a Fission Yeast Temperature-Sensitive Mutant in cdc48 Identified by Whole Genome Sequencing

Irina N. Marinova, Jacob Engelbrecht, [ ... ], Rasmus Hartmann-Petersen

Characterization of RanBPM Molecular Determinants that Control Its Subcellular Localization

Louisa M. Salemi, Sandra O. Loureiro, Caroline Schild-Poulter

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, [ ... ], Véronique David

Proteasome 19S RP Binding to the Sec61 Channel Plays a Key Role in ERAD

Marie-Luise Kaiser, Karin Römisch

Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, [ ... ], Claire M. Wade

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, [ ... ], Mazen Kurban

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, [ ... ], Carsten Bergmann

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, [ ... ], Marcelo A. Kauffman

The Unphosphorylated EIIA^Ntr Protein Represses the Synthesis of Alkylresorcinols in Azotobacter vinelandii

Luis Felipe Muriel-Millán, Soledad Moreno, [ ... ], Guadalupe Espín

HIV Drug Resistance Mutations in Proviral DNA from a Community Treatment Program

Anne Derache, Hyoung-Shik Shin, [ ... ], David Katzenstein

Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia

Suriati Mohamad, Nurismah Md Isa, [ ... ], Sharifah Noor Akmal

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