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Dideoxy DNA sequencing

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, [ ... ], Furen Zhang

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Xue Feng, Tianying Wei, [ ... ], Yinghui Ye

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

Romy van de Putte, Charlotte H. W. Wijers, [ ... ], Iris A. L. M. van Rooij

Application of Multi-Objective Optimization to Pooled Experiments of Next Generation Sequencing for Detection of Rare Mutations

Julius Žilinskas, Algirdas Lančinskas, Mario Rosario Guarracino

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, [ ... ], Milan Jirsa

Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia

Vu Viet Ha Vuong, Thinh Huy Tran, [ ... ], Van-Khanh Tran

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, [ ... ], Hideki Ishii

Implementation of Cell Samples as Controls in National Proficiency Testing for Clopidogrel Therapy-Related CYP2C19 Genotyping in China: A Novel Approach

Guigao Lin, Lang Yi, [ ... ], Jinming Li

Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

Pia Laine, William J. Rowell, [ ... ], Jenny M. Ekholm

Deep Sequencing Analysis of HBV Genotype Shift and Correlation with Antiviral Efficiency during Adefovir Dipivoxil Therapy

Yuwei Wang, Xuefeng Shan, [ ... ], Ailong Huang

A targeted amplicon next-generation sequencing assay for tryptase genotyping to support personalized therapy in mast cell-related disorders

Olga Li, Jason A. Hackney, [ ... ], Shadi Toghi Eshghi

Intra-host and intra-household diversity of influenza A viruses during household transmissions in the 2013 season in 2 peri-urban communities of South Africa

Ziyaad Valley-Omar, Preetha Iyengar, [ ... ], Florette K. Treurnicht

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux

Zsuzsa I. Bartik, Ulla Sillén, [ ... ], Susanne Fransson

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