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Frameshift mutation

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza, Davide Cittaro, [ ... ], Dejan Lazarević

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, [ ... ], Byung Yoon Choi

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, [ ... ], Abdelhamid Barakat

A spontaneous mutation in kdsD, a biosynthesis gene for 3 Deoxy-_D-manno-Octulosonic Acid, occurred in a ciprofloxacin resistant strain of Francisella tularensis and caused a high level of attenuation in murine models of tularemia

Taylor Chance, Jennifer Chua, [ ... ], Joel A. Bozue

Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, [ ... ], Hitoshi Okochi

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, [ ... ], Karin Wadt

The Mutational Spectrum of Lynch Syndrome in Cyprus

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

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, [ ... ], Qun He

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

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

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

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, [ ... ], Christine Petit

Population-Based Analysis of Invasive Nontypeable Pneumococci Reveals That Most Have Defective Capsule Synthesis Genes

In Ho Park, K. Aaron Geno, [ ... ], Bernard Beall

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

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