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Frameshift mutation

Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Zhan-fang Sun, Yu-han Zhang, [ ... ], Bei-sha Tang

The Mutational Spectrum of Lynch Syndrome in Cyprus

Maria A. Loizidou, Ioanna Neophytou, [ ... ], Kyriacos Kyriacou

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

Catarina D. Campbell, Kiana Mohajeri, [ ... ], Evan E. Eichler

High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, [ ... ], Maria Teresa Gomez-Casares

Novel Missense Variants of ZFPM2/FOG2 Identified in Conotruncal Heart Defect Patients Do Not Impair Interaction with GATA4

Wenwen Zhang, Li Shen, [ ... ], Long Yi

Acquired Resistance of Mycobacterium tuberculosis to Bedaquiline

Koen Andries, Cristina Villellas, [ ... ], Anil Koul

Functional and Molecular Surveillance of Helicobacter pylori Antibiotic Resistance in Kuala Lumpur

Xinsheng Teh, Yalda Khosravi, [ ... ], Khean Lee Goh

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, [ ... ], Raheel Qamar

Screening for Streptomycin Resistance-Conferring Mutations in Mycobacterium tuberculosis Clinical Isolates from Poland

Tomasz Jagielski, Helena Ignatowska, [ ... ], Jacek Bielecki

Analysis of Familial Hemophagocytic Lymphohistiocytosis Type 4 (FHL-4) Mutant Proteins Reveals that S-Acylation Is Required for the Function of Syntaxin 11 in Natural Killer Cells

Andrew L. Hellewell, Ombretta Foresti, [ ... ], Eric W. Hewitt

Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity

Relu Cocoş, Alina Şendroiu, [ ... ], Florina Raicu

Mutations in SACPD-C Result in a Range of Elevated Stearic Acid Concentration in Soybean Seed

Militza Carrero-Colón, Nathan Abshire, [ ... ], Karen Hudson

Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, [ ... ], Luisa Barzon

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