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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, Korcan Demir, Roua A. Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F. Al-Enezi, Seçil Özışık, Manar S. A. Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E. Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E. Tamimi, Brian F. Meyer, Ece Böber, Yufei Shi

published 05 Mar 2018

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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, Mao Takeuchi, Kouhei Morita, Maiko Takeda, Kinta Hatakeyama, Tokiko Nakai, Tomoko Uchiyama, Hiroe Itami, Tomomi Fujii, Akira Mitoro, Masayuki Sho, Chiho Ohbayashi

published 01 Mar 2018

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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, Wiebke Jeske, Wolfgang Hartmann, Sabine Merkelbach-Bruse, Hans-Ulrich Schildhaus, Reinhard Büttner, Harri Sihto, Kirsten Sundby Hall, Mikael Eriksson, Peter Reichardt, Heikki Joensuu, Eva Wardelmann

published 16 Feb 2018

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

Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang

published 16 Feb 2018

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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

published 06 Feb 2018

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

Mingjie Tang, Mingkun Zhang, Shihan Yan, Liangping Xia, Zhongbo Yang, Chunlei Du, Hong-Liang Cui, Dongshan Wei

published 24 Jan 2018

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

Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

published 11 Jan 2018

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

Jenny Coetzee, Gillian Hunt, Maya Jaffer, Kennedy Otwombe, Lesley Scott, Asiashu Bongwe, Johanna Ledwaba, Sephonono Molema, Rachel Jewkes, Glenda E. Gray

published 15 Dec 2017

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

Hongyan Shu, Jingwei Chi, Jing Li, Wei Zhang, Wenshan Lv, Jie Wang, Yujie Deng, Xu Hou, Yangang Wang

published 11 Dec 2017

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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, Marylin Puerto-Solis, Refugio Gonzalez-Losa, Pilar Granja-Pérez, Salha Villanueva-Jorge, Maria Chan-Gasca, Jesus Gómez-Carballo, Luisa López-Ochoa, Bertha Jiménez-Delgadillo, Iram Rodríguez-Sánchez, Jorge Ramírez-Prado, Guadalupe Ayora-Talavera

published 08 Dec 2017

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

Saif Ullah Munshi, Thanh Thi Thanh Tran, Truc Nhu Thanh Vo, Shahina Tabassum, Nahida Sultana, Trang Hoa Nguyen, Munira Jahan, Chau Ngoc Le, Stephen Baker, Motiur Rahman

published 07 Dec 2017

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

Dorcas J. Orengo, Montserrat Aguadé, Elvira Juan

published 04 Dec 2017

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Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong

published 29 Nov 2017

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