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Mutation detection

Mutation in Parkinson Disease-Associated, G-Protein-Coupled Receptor 37 (GPR37/PaelR) Is Related to Autism Spectrum Disorder

Eriko Fujita-Jimbo, Zhi-Ling Yu, [ ... ], Mariko Y. Momoi

A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding

Susana Granell, Clara Serra-Juhé, [ ... ], Jesús Argente

High DNA Methyltransferase DNMT3B Levels: A Poor Prognostic Marker in Acute Myeloid Leukemia

Sandrine Hayette, Xavier Thomas, [ ... ], Mauricette Michallet

Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A Using COLD-PCR Combined with HRM Genotyping Analysis from Maternal Serum

Hada C. Macher, Maria A. Martinez-Broca, [ ... ], Juan M. Guerrero

Enrichment of Mutations in Multiple DNA Sequences Using COLD-PCR in Emulsion

Elena Castellanos-Rizaldos, Coren Audrey Milbury, G. Mike Makrigiorgos

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, [ ... ], Mustafa Tekin

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Ying Lin, Xue-Jun Chen, [ ... ], Zheng-Lin Yang

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

Catherine Cukras, Terry Gaasterland, [ ... ], Radha Ayyagari

Multivariate Phenotypic Divergence Due to the Fixation of Beneficial Mutations in Experimentally Evolved Lineages of a Filamentous Fungus

Sijmen E. Schoustra, David Punzalan, [ ... ], Rees Kassen

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

Yongyi Yuan, Weiwei Guo, [ ... ], Pu Dai

High-Throughput Discovery of Chloroplast and Mitochondrial DNA Polymorphisms in Brassicaceae Species by ORG-EcoTILLING

Chang-Li Zeng, Guang-Yong Wang, [ ... ], Lei Liu

Evaluation of Genotype MTBDRsl Assay to Detect Drug Resistance Associated with Fluoroquinolones, Aminoglycosides and Ethambutol on Clinical Sediments

Kanchan Ajbani, Chaitali Nikam, [ ... ], Camilla Rodrigues

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Marka van Blitterswijk, Lotte Vlam, [ ... ], Leonard H. van den Berg

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