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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
Teyssou, Elisa, Takeda, Takahiro, Lebon, Vincent, Boillée, Séverine, Doukouré, Brahima, Bataillon, Guillaume, Sazdovitch, Véronique, Cazeneuve, Cécile, Meininger, Vincent, LeGuern, Eric, Salachas, François, Seilhean, Danielle, Millecamps, Stéphanie
Published in Acta neuropathologica (01.04.2013)
Published in Acta neuropathologica (01.04.2013)
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The Gene Encoding Acyl-CoA-binding Protein Is Subject to Metabolic Regulation by Both Sterol Regulatory Element-binding Protein and Peroxisome Proliferator-activated Receptor α in Hepatocytes
Sandberg, Maria B., Bloksgaard, Maria, Duran-Sandoval, Daniel, Duval, Caroline, Staels, Bart, Mandrup, Susanne
Published in The Journal of biological chemistry (18.02.2005)
Published in The Journal of biological chemistry (18.02.2005)
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Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective
Umamaheswaran, Gurusamy, Kumar, Dhakchinamoorthi Krishna, Adithan, Chandrasekaran
Published in Indian journal of medical research (New Delhi, India : 1994) (01.01.2014)
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Published in Indian journal of medical research (New Delhi, India : 1994) (01.01.2014)
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Elevated expression of messenger ribonucleic acid encoding IL-13 in the bronchial mucosa of atopic and nonatopic subjects with asthma
Humbert, Marc, Durham, Stephen R., Kimmitt, Patrick, Powell, Nicholas, Assoufi, Basil, Pfister, Rudi, Menz, Günter, Kay, A.Barry, Corrigan, Chris J.
Published in Journal of allergy and clinical immunology (01.05.1997)
Published in Journal of allergy and clinical immunology (01.05.1997)
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IntrinsicNGP: Intrinsic Coordinate Based Hash Encoding for Human NeRF
Peng, Bo, Hu, Jun, Zhou, Jingtao, Gao, Xuan, Zhang, Juyong
Published in IEEE transactions on visualization and computer graphics (01.08.2024)
Published in IEEE transactions on visualization and computer graphics (01.08.2024)
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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter
Umeno, Junji, Hisamatsu, Tadakazu, Esaki, Motohiro, Hirano, Atsushi, Kubokura, Naoya, Asano, Kouichi, Kochi, Shuji, Yanai, Shunichi, Fuyuno, Yuta, Shimamura, Katsuyoshi, Hosoe, Naoki, Ogata, Haruhiko, Watanabe, Takashi, Aoyagi, Kunihiko, Ooi, Hidehisa, Watanabe, Kenji, Yasukawa, Shigeyoshi, Hirai, Fumihito, Matsui, Toshiyuki, Iida, Mitsuo, Yao, Tsuneyoshi, Hibi, Toshifumi, Kosaki, Kenjiro, Kanai, Takanori, Kitazono, Takanari, Matsumoto, Takayuki
Published in PLoS genetics (01.11.2015)
Published in PLoS genetics (01.11.2015)
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Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant
McIntosh, Jenny, Lenting, Peter J., Rosales, Cecilia, Lee, Doyoung, Rabbanian, Samira, Raj, Deepak, Patel, Nishil, Tuddenham, Edward G.D., Christophe, Olivier D., McVey, John H., Waddington, Simon, Nienhuis, Arthur W., Gray, John T., Fagone, Paolo, Mingozzi, Federico, Zhou, Shang-Zhen, High, Katherine A., Cancio, Maria, Ng, Catherine Y.C., Zhou, Junfang, Morton, Christopher L., Davidoff, Andrew M., Nathwani, Amit C.
Published in Blood (25.04.2013)
Published in Blood (25.04.2013)
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Human Molecular Genetic and Functional Studies Identify TRIM63, Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy
Chen, Suet Nee, Czernuszewicz, Grazyna, Tan, Yanli, Lombardi, Raffaella, Jin, Jianping, Willerson, James T., Marian, Ali J.
Published in Circulation research (14.09.2012)
Published in Circulation research (14.09.2012)
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Partial-Neurons-Based Proportional-Integral Observer Design for Artificial Neural Networks: A Multiple Description Encoding Scheme
Zhao, Di, Wang, Zidong, Chen, Yun, Wei, Guoliang, Sheng, Weiguo
Published in IEEE transaction on neural networks and learning systems (01.05.2024)
Published in IEEE transaction on neural networks and learning systems (01.05.2024)
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Brain color-coded diffusion imaging: Utility of ACPC reorientation of gradients in healthy subjects and patients
Ouachikh, Omar, Chaix, Remi, Sontheimer, Anna, Coste, Jerome, Aider, Omar Ait, Dautkulova, Aigerim, Abdelouahab, Kamel, Hafidi, Aziz, Salah, Maha Ben, Pereira, Bruno, Lemaire, Jean-Jacques
Published in Computer methods and programs in biomedicine (01.12.2024)
Published in Computer methods and programs in biomedicine (01.12.2024)
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