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Frameshift mutation

Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity

Relu Cocoş, Alina Şendroiu, Sorina Schipor, Laurenţiu Camil Bohîlţea, Ionuţ Şendroiu, Florina Raicu

published 04 Jun 2014

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Mutations in SACPD-C Result in a Range of Elevated Stearic Acid Concentration in Soybean Seed

Militza Carrero-Colón, Nathan Abshire, Daniel Sweeney, Erik Gaskin, Karen Hudson

published 20 May 2014

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Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, Alessandro Sinigaglia, Barbara Mantelli, Gianmaria Pennelli, Ignazio Castagliuolo, Giorgio Palù, Luisa Barzon

published 19 May 2014

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Population-Based Analysis of Invasive Nontypeable Pneumococci Reveals That Most Have Defective Capsule Synthesis Genes

In Ho Park, K. Aaron Geno, Logan K. Sherwood, Moon H. Nahm, Bernard Beall

published 15 May 2014

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Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Weining Rong, Xue Chen, Kanxing Zhao, Yani Liu, Xiaoxing Liu, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Xunlun Sheng, Chen Zhao

published 15 May 2014

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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O. Artemyev, Christian P. Hamel, Philippe Brabet

published 23 Apr 2014

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Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

published 21 Apr 2014

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Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

Leonardo Murgiano, Vidhya Jagannathan, Cinzia Benazzi, Marilena Bolcato, Barbara Brunetti, Luisa Vera Muscatello, Keren Dittmer, Christian Piffer, Arcangelo Gentile, Cord Drögemüller

published 14 Apr 2014

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A High-Throughput Colorimetric Screening Assay for Terpene Synthase Activity Based on Substrate Consumption

Maiko Furubayashi, Mayu Ikezumi, Jun Kajiwara, Miki Iwasaki, Akira Fujii, Ling Li, Kyoichi Saito, Daisuke Umeno

published 28 Mar 2014

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Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

Yi-Lei Wu, Daw-Yang Hwang, Hui-Pin Hsiao, Wei-Hsin Ting, Chi-Yu Huang, Wen-Yu Tsai, Hung-Chun Chen, Mei-Chyn Chao, Fu-Sung Lo, Jeng-Daw Tsai, Stone Yang, Shin-Lin Shih, Shuan-Pei Lin, Chiung-Ling Lin, Yann-Jinn Lee

published 20 Mar 2014

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TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara

published 17 Mar 2014

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Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

Dong-Jun Xing, Hong-Xing Zhang, Na Huang, Kun-Chao Wu, Xiu-Feng Huang, Fang Huang, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

published 07 Mar 2014

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Comparative Genomic Analysis of Primary and Synchronous Metastatic Colorectal Cancers

Sun Young Lee, Farhan Haq, Deokhoon Kim, Cui Jun, Hui-Jong Jo, Sung-Min Ahn, Won-Suk Lee

published 05 Mar 2014

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