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Mutation detection

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, [ ... ], Yufei Shi

K-ras mutation analysis of residual liquid-based cytology specimens from endoscopic ultrasound-guided fine needle aspiration improves cell block diagnosis of pancreatic ductal adenocarcinoma

Yoko Sekita-Hatakeyama, Takeshi Nishikawa, [ ... ], Chiho Ohbayashi

Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment

Michaela Angelika Ihle, Sebastian Huss, [ ... ], Eva Wardelmann

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

Haoran Ji, Dongxiao Li, [ ... ], Jingmin Wang

Analysis of HBV basal core promoter/precore gene variability in patients with HBV drug resistance and HIV co-infection in Northwest Ethiopia

Yeshambel Belyhun, Uwe Gerd Liebert, Melanie Maier

Detection of DNA oligonucleotides with base mutations by terahertz spectroscopy and microstructures

Mingjie Tang, Mingkun Zhang, [ ... ], Dongshan Wei

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

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

HIV-1 viraemia and drug resistance amongst female sex workers in Soweto, South Africa: A cross sectional study

Jenny Coetzee, Gillian Hunt, [ ... ], Glenda E. Gray

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Hongyan Shu, Jingwei Chi, [ ... ], Yangang Wang

Temporal distribution and genetic variants in influenza A(H1N1)pdm09 virus circulating in Mexico, seasons 2012 and 2013

Jose Reyes Canche-Pech, Laura Conde-Ferraez, [ ... ], Guadalupe Ayora-Talavera

Molecular characterization of hepatitis B virus in Bangladesh reveals a highly recombinant population

Saif Ullah Munshi, Thanh Thi Thanh Tran, [ ... ], Motiur Rahman

Characterization of dFOXO binding sites upstream of the Insulin Receptor P2 promoter across the Drosophila phylogeny

Dorcas J. Orengo, Montserrat Aguadé, Elvira Juan

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, [ ... ], Bing-Wen Soong

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