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121by Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andrée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly“... as pathogenic according to American College of Medical Genetics and Genomics guidelines....”
Published 2020-02-01
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122by Sang-Yeon Lee, Jin Hee Han, Bong Jik Kim, Seung Ha Oh, Seungmin Lee, Doo-Yi Oh, Byung Yoon Choi“...> variants based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology...”
Published 2019-08-01
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123by Marta Codrich, Emiliano Dalla, Catia Mio, Giulia Antoniali, Matilde Clarissa Malfatti, Stefania Marzinotto, Mariaelena Pierobon, Elisa Baldelli, Carla Di Loreto, Giuseppe Damante, Giovanni Terrosu, Carlo Ennio Michele Pucillo, Gianluca Tell“... to be deleterious according to the American College of Medical Genetics and Genomics (ACMG) classification...”
Published 2021-06-01
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124by Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha“... as "pathogenic" according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Conclusion...”
Published 2021-06-01
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125by Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yangyang Wang, Mengna Zhang, Yu Zhang, Jonathan Picker, Xiaodai Cui, Liping Zou, Xiaoli Chen“... interpreted as pathogenic mutations based on American College of Medical Genetics and Genomics guidelines...”
Published 2021-06-01
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126by Xuewen Xiao, Hui Liu, Xixi Liu, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Sizhe Zhang, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao“... of medical genetics and genomics and the association for molecular pathology (ACMG-AMP) guidelines. In our...”
Published 2021-06-01
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127by Lucas Santos de Santana“... of the country. The implementation of the ACMG guidelines (The American College of Medical Genetics and Genomics...”
Published 2017
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128by Santana, Lucas Santos de“... of the country. The implementation of the ACMG guidelines (The American College of Medical Genetics and Genomics...”
Published 2017
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129by Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson“... with the American College of Medical Genetics and Genomics (ACMG) criteria, in MYH7 (n = 2), RBM20, ALPK3, and PGM1...”
Published 2020-12-01
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130by Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, Tássia Tonon, Maria Teresinha de Oliveira Cardoso, Romina Soledad Heredia, Maria Teresa Alves da Silva Rosa, Bárbara Cátia Martins, Monique Oliveira Poubel, Luiz Carlos Santana da Silva, François Maillot, Ida Vanessa Doederlein Schwartz“... as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG) criteria. The molecular...”
Published 2021-12-01
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131by Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun“... of Medical Genetics and Genomics. Results Nine of the 12 pedigrees were identified the disease causing...”
Published 2020-11-01
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132by Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón“... and classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology...”
Published 2020-10-01
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133by Tian-Yi Cui, Xue Gao, Sha-Sha Huang, Yan-Yan Sun, Si-Qi Zhang, Xin-Xia Jiang, Yan-Zhong Yang, Dong-Yang Kang, Qing-Wen Zhu, Yong-Yi Yuan“... by targeted next-generation sequencing and Sanger sequencing. Based on the American College of Medical...”
Published 2020-01-01
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134by Yaling Jiang, Bin Jiao, Bin Jiao, Bin Jiao, Xinxin Liao, Xinxin Liao, Xinxin Liao, Xuewen Xiao, Xixi Liu, Lu Shen, Lu Shen, Lu Shen, Lu Shen“... with clinical AD and 365 normal controls from China. As a result, according to American College of Medical...”
Published 2020-09-01
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135by Huy-Hoang Nguyen, Ngoc Khanh Nguyen, Chi Dung Vu, Thi Thu Huong Nguyen, Thi Thu Huong Nguyen, Ngoc-Lan Nguyen, Ngoc-Lan Nguyen“... of Medical Genetics and Genomics (ACMG). Genetic analyses in the families indicated the mothers were...”
Published 2020-07-01
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136by Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu, Zhou Zhou“... deleterious variant screening. A reference gene list was defined according to the American College of Medical...”
Published 2018-09-01
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137by Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly“...) was considered as deficient according to the clinical and biological data and to the American College of Medical...”
Published 2018-09-01
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138by Oscar Campuzano, Anna Fernandez-Falgueras, Ximena Lemus, Georgia Sarquella-Brugada, Sergi Cesar, Monica Coll, Jesus Mates, Elena Arbelo, Paloma Jordà, Alexandra Perez-Serra, Bernat del Olmo, Carles Ferrer-Costa, Anna Iglesias, Victoria Fiol, Marta Puigmulé, Laura Lopez, Ferran Pico, Josep Brugada, Ramon Brugada“... currently catalogued as deleterious in short QT syndrome according to the American College of Medical...”
Published 2019-07-01
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139by Xue Gao, Jin-Cao Xu, Wei-Qian Wang, Yong-Yi Yuan, Dan Bai, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jia Li, Dong-Yang Kang, Mei-Guang Zhang, Xi Lin, Pu Dai“... to the American College of Medical Genetics and Genomics guidelines. We conclude that POU4F3 c.602T>C (p.Leu201Pro...”
Published 2018-01-01
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140by Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li“... variants was evaluated in accordance with the American College of Medical Genetics and Genomics (ACMG...”
Published 2018-09-01
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