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Mutation detection

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

Lisha Mou, Nie Xie, Lihua Yang, Yuchen Liu, Ruiying Diao, Zhiming Cai, Honggang Li, Yaoting Gui

published 24 Jul 2015

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Comprehensive Molecular Analysis of NSCLC; Clinicopathological Associations

Ilenia Chatziandreou, Panagiota Tsioli, Stratigoula Sakellariou, Ioanna Mourkioti, Ioanna Giannopoulou, Georgia Levidou, Penelope Korkolopoulou, Efstratios Patsouris, Angelica A. Saetta

published 24 Jul 2015

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Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome

Vivian M. Spaans, Marjolijn D. Trietsch, Alexander A. W. Peters, Michelle Osse, Natalja ter Haar, Gert J. Fleuren, Ekaterina S. Jordanova

published 21 Jul 2015

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

published 21 Jul 2015

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Genetic Variants Associated with Port-Wine Stains

Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T. Tan, Rebecca Margraf, David A. Stevenson, J. Fredrik Grimmer, Pinar Bayrak-Toydemir

published 20 Jul 2015

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Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens

Christoph B. Geier, Alexander Piller, Angela Linder, Kai M. T. Sauerwein, Martha M. Eibl, Hermann M. Wolf

published 17 Jul 2015

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Indexing Arbitrary-Length k-Mers in Sequencing Reads

Tomasz Kowalski, Szymon Grabowski, Sebastian Deorowicz

published 16 Jul 2015

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Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis

Ziyan Wu, Shulan Zhang, Jing Li, Si Chen, Ping Li, Fei Sun, Xiaoting Wen, Wenjie Zheng, Fengchun Zhang, Yongzhe Li

published 15 Jul 2015

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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis

published 15 Jul 2015

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A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

Barshagul T. Baikara, Elena V. Zholdybayeva, Saule E. Rakhimova, Nazym B. Nigmatullina, Kuvat T. Momynaliev, Yerlan M. Ramanculov

published 13 Jul 2015

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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang

published 10 Jul 2015

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Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes

Yonghui Jin, Hassan Elalaf, Makoto Watanabe, Sakura Tamaki, Sho Hineno, Kazuhito Matsunaga, Knut Woltjen, Yukiko Kobayashi, Sanae Nagata, Makoto Ikeya, Tomohisa Kato Jr, Takeshi Okamoto, Shuichi Matsuda, Junya Toguchida

published 10 Jul 2015

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A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Irene Johnsrud, Mari Ann Kulseth, Olaug Kristin Rødningen, Linn Landrø, Per Helsing, Erik Waage Nielsen, Ketil Heimdal

published 08 Jul 2015

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