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Deletion mutation

Parallel Faster-X Evolution of Gene Expression and Protein Sequences in Drosophila: Beyond Differences in Expression Properties and Protein Interactions

Ana Llopart

published 19 Mar 2015

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Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

published 13 Mar 2015

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The Use of a Two-Tiered Testing Strategy for the Simultaneous Detection of Small EGFR Mutations and EGFR Amplification in Lung Cancer

Marzena Anna Lewandowska, Karol Czubak, Katarzyna Klonowska, Wojciech Jozwicki, Janusz Kowalewski, Piotr Kozlowski

published 26 Feb 2015

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Effects of N-Glycosylation Site Removal in Archaellins on the Assembly and Function of Archaella in Methanococcus maripaludis

Yan Ding, Kaoru Uchida, Shin-Ichi Aizawa, Kathleen Murphy, Alison Berezuk, Cezar M. Khursigara, James P. J. Chong, Ken F. Jarrell

published 20 Feb 2015

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Efflux Pump Gene Expression in Multidrug-Resistant Mycobacterium tuberculosis Clinical Isolates

Guilian Li, Jingrui Zhang, Qian Guo, Yi Jiang, Jianhao Wei, Li-li Zhao, Xiuqin Zhao, Jianxin Lu, Kanglin Wan

published 19 Feb 2015

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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

published 06 Feb 2015

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Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, Dana Saadeh, Ossama Abbas, Farah Ballout, Abdul-Ghani Kibbi, Ghassan Dbaibo, Nadine Darwiche, Georges Nemer, Mazen Kurban

published 06 Feb 2015

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Evolution of BCR/ABL Gene Mutation in CML Is Time Dependent and Dependent on the Pressure Exerted by Tyrosine Kinase Inhibitor

Shantashri Vaidya, Babu Rao Vundinti, Chandrakala Shanmukhaiah, Prantar Chakrabarti, Kanjaksha Ghosh

published 28 Jan 2015

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Model Selection Emphasises the Importance of Non-Chromosomal Information in Genetic Studies

Reda Rawi, Mohamed El Anbari, Halima Bensmail

published 27 Jan 2015

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A New Metric of Inclusive Fitness Predicts the Human Mortality Profile

Saul J. Newman, Simon Easteal

published 21 Jan 2015

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Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

published 29 Dec 2014

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iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice

Yang Leilei, Liu Bing, Li Yang, Wang Shaoxia, Xu Yuan, Wang Dongping, Ye Huahu, Shang Shichen, Zhang Guangzhou, Peng Ruiyun, Zeng Lin, Li Wenlong

published 29 Dec 2014

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Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou, Isavella Savva, Christoforos Stavrou, Michael Zavros, Yiannis Athanasiou, Kyriakos Ioannou, Charalambos Patsias, Alexia Panagides, Costas Potamitis, Kyproula Demetriou, Marios Prikis, Michael Hadjigavriel, Maria Kkolou, Panayiota Loukaidou, Androulla Pastelli, Aristos Michael, Akis Lazarou, Maria Arsali, Loukas Damianou, Ioanna Goutziamani, Andreas Soloukides, Lakis Yioukas, Avraam Elia, Ioanna Zouvani, Polycarpos Polycarpou, Alkis Pierides, Konstantinos Voskarides, Constantinos Deltas

published 16 Dec 2014

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