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144by Till F M Andlauer, Sabrina Scholz-Kornehl, Rui Tian, Marieluise Kirchner, Husam A Babikir, Harald Depner, Bernhard Loll, Christine Quentin, Varun K Gupta, Matthew G Holt, Shubham Dipt, Michael Cressy, Markus C Wahl, André Fiala, Matthias Selbach, Martin Schwärzel, Stephan J SigristSubjects: “...CIDE-N protein family...”
Published 2014-11-01
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145by Jian, XueqiuSubjects: “...family-based design...”
Published 2010
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146by Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang, Li-Yang Zhang“... identified as the cause of HSAN-VI. DST encodes dystonin, a member of the plakin protein family...”
Published 2020-05-01
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147by Makia J. Marafie, Ibrahim S. Al Suliman, Abdullah M. Redha, Abdulrahman M. Alshati“... consanguineous Kuwaiti family with a novel pathogenic DNAH5 gene mutation; namely c.9864dupA; [p.Pro3289ThrfsStop...”
Published 2015-01-01
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148by Patel, Palak“...Legionella pneumophila, an intracellular pathogen of protozoa, is well known for its dimorphic life...”
Published 2014
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149“..., neuroimaging, neuropathological, and genetic analyses of a family with HDLS. A novel splicing mutation...”
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150by Deborah A Kuhls, Kazuhide Matsushima, Ronald Stewart, Tracey Dechert, Stephanie Bonne, Thomas K Duncan, Kimberly Joseph, Sharven Taghavi“... in the trauma world. It highlights the importance of the Family Justice Center concept that brings a multitude...”
Published 2021-08-01
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151by Marwa Chourabi, Dorra H’mida-Ben Brahim, Carine Bonnard, Amina Aounallah, Alvin Yu Ng, Sumanty Tohari, Byrappa Venkatesh, Ali Saad, Lobna Boussofara, Bruno Reversade, Mohamed Denguezli“... that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene...”
Published 2018-04-01
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152“.... Methods A patient from a Chinese consanguineous family presented with polydactyly, truncal obesity...”
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153by Abhinav Jain, Geeta Madathil Govindaraj, Athulya Edavazhippurath, Nabeel Faisal, Rahul C Bhoyar, Vishu Gupta, Ramya Uppuluri, Shiny Padinjare Manakkad, Atul Kashyap, Anoop Kumar, Mohit Kumar Divakar, Mohamed Imran, Sneha Sawant, Aparna Dalvi, Krishnan Chakyar, Manisha Madkaikar, Revathi Raj, Sridhar Sivasubbu, Vinod Scaria“... been widely used in difficult to diagnose and familial cases. We report a large Indian family suffering...”
Published 2021-01-01
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154by Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar“... phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non...”
Published 2020-06-01
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155by Tianle Qu, Chunyue Zhang, Zhen Qin, Liqiang Fan, Lihua Jiang, Liming Zhao, Liming ZhaoSubjects: “...glycoside hydrolase family 20...”
Published 2021-05-01
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156by Blanco, M.-J.“... and subsequently considers the significance of diaries, letters, and life-writing in her novels of the 1990s. After...”
Published 2010
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157by Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova“...: Symptoms of disease manifested from the first months of life as severe hepatic dysfunction...”
Published 2021-06-01
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158by Yue Qiu, Sen Chen, Xia Wu, Wen-Juan Zhang, Wen Xie, Yuan Jin, Le Xie, Kai Xu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Yu Sun, Wei-Jia Kong“...), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known...”
Published 2020-01-01
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160by Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Marlies Kempers, Nilesh J. Samani, Tom R. Webb, Ania A. Baranowska, Lotte Van Den Heuvel, Melanie Perik, Ilse Luyckx, Nils Peeters, Pavel Votypka, Milan Macek, Josephina Meester, Lut Van Laer, Aline Verstraeten, Bart L. Loeys“... lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we...”
Published 2021-07-01
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