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Deletion mutation

Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease

Jing Dong, Xiaojuan Zhao, Sensen Shi, Zhenni Ma, Meng Liu, Qingyu Wu, Changgeng Ruan, Ningzheng Dong

published 27 Mar 2012

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Mutation Accumulation in a Selfing Population: Consequences of Different Mutation Rates between Selfers and Outcrossers

Shin-Ichiro Nakayama, Shoi Shi, Masaki Tateno, Masakazu Shimada, K. Ryo Takahasi

published 20 Mar 2012

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Deleterious GRM1 Mutations in Schizophrenia

Mohammed Akli Ayoub, Dora Angelicheva, David Vile, David Chandler, Bharti Morar, Juleen A. Cavanaugh, Peter M. Visscher, Assen Jablensky, Kevin D. G. Pfleger, Luba Kalaydjieva

published 20 Mar 2012

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Epistasis for Growth Rate and Total Metabolic Flux in Yeast

Agata Jakubowska, Ryszard Korona

published 06 Mar 2012

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Mesenchymal Stem Cells Transfer Mitochondria to the Cells with Virtually No Mitochondrial Function but Not with Pathogenic mtDNA Mutations

Young Min Cho, Ju Han Kim, Mingoo Kim, Su Jin Park, Sang Hyeok Koh, Hyo Seop Ahn, Gyeong Hoon Kang, Jung-Bin Lee, Kyong Soo Park, Hong Kyu Lee

published 06 Mar 2012

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Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

Takashi Arai, Tsutomu Oh-ishi, Hideaki Yamamoto, Hiroyuki Nunoi, Junji Kamizono, Masahiko Uehara, Takeo Kubota, Takuya Sakurai, Takako Kizaki, Hideki Ohno

published 27 Feb 2012

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Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

Shin-ichi Usami, Shin-ya Nishio, Makoto Nagano, Satoko Abe, Toshikazu Yamaguchi, the Deafness Gene Study Consortium

published 24 Feb 2012

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Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Hiroshi Nakanishi, Shinji Ueno, Tadashi Yokoi, Akiko Hikoya, Taichi Fujita, Yang Zhao, Sachiko Nishina, Jae Pil Shin, In Taek Kim, Shuichi Yamamoto, Noriyuki Azuma, Hiroko Terasaki, Miho Sato, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta

published 17 Feb 2012

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Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas

Jong Dae Lee, Tae Jun Kwon, Un-Kyung Kim, Won-Sang Lee

published 25 Jan 2012

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Metabolic Networks of Sodalis glossinidius: A Systems Biology Approach to Reductive Evolution

Eugeni Belda, Francisco J. Silva, Juli Peretó, Andrés Moya

published 24 Jan 2012

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Disease-Associated Mutations Prevent GPR56-Collagen III Interaction

Rong Luo, Zhaohui Jin, Yiyu Deng, Natalie Strokes, Xianhua Piao

published 04 Jan 2012

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Long-Term Infection and Vertical Transmission of a Gammaretrovirus in a Foreign Host Species

Toshie Sakuma, Jason M. Tonne, Jessica A. Malcolm, Tayaramma Thatava, Seiga Ohmine, Kah-Whye Peng, Yasuhiro Ikeda

published 03 Jan 2012

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A Novel ‘Gene Insertion/Marker Out’ (GIMO) Method for Transgene Expression and Gene Complementation in Rodent Malaria Parasites

Jing-wen Lin, Takeshi Annoura, Mohammed Sajid, Séverine Chevalley-Maurel, Jai Ramesar, Onny Klop, Blandine M. D. Franke-Fayard, Chris J. Janse, Shahid M. Khan

published 27 Dec 2011

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