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Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
Battini, Roberta, Leuzzi, Vincenzo, Carducci, Carla, Tosetti, Michela, Bianchi, Maria C, Item, Chike B, Stöckler-Ipsiroglu, Sylvia, Cioni, Giovanni
Published in Molecular genetics and metabolism (01.12.2002)
Published in Molecular genetics and metabolism (01.12.2002)
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Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects
van Eijk, Kristel R, de Jong, Simone, Boks, Marco PM, Langeveld, Terry, Colas, Fabrice, Veldink, Jan H, de Kovel, Carolien GF, Janson, Esther, Strengman, Eric, Langfelder, Peter, Kahn, René S, van den Berg, Leonard H, Horvath, Steve, Ophoff, Roel A
Published in BMC genomics (17.11.2012)
Published in BMC genomics (17.11.2012)
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Genetical analysis of components of overall plant shape [tobacco]
Calgari, P.D.S, Hanks, M.J. (Birmingham Univ. (UK). Dept. of Genetics)
Published in Theoretical and applied genetics (01.03.1978)
Published in Theoretical and applied genetics (01.03.1978)
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Lipoprotein(a) Is Markedly More Atherogenic Than LDL: An Apolipoprotein B-Based Genetic Analysis
Björnson, Elias, Adiels, Martin, Taskinen, Marja-Riitta, Burgess, Stephen, Chapman, M John, Packard, Chris J, Borén, Jan
Published in Journal of the American College of Cardiology (23.01.2024)
Published in Journal of the American College of Cardiology (23.01.2024)
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Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study
Caretto, Amelia, Errichiello, Edoardo, Patricelli, Maria Grazia, Zuffardi, Orsetta, Cristel, Giulia, Ravelli, Silvia, Sirtori, Marcella, Scavini, Marina, Bosi, Emanuele, Martinenghi, Sabina
Published in Medicine (Baltimore) (23.12.2021)
Published in Medicine (Baltimore) (23.12.2021)
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Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias
Mares, L., Vilchis, F., Chávez, B., Ramos, L.
Published in Journal of pediatric urology (01.10.2020)
Published in Journal of pediatric urology (01.10.2020)
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Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort
Caspers, Michael, Pavlova, Anna, Driesen, Julia, Harbrecht, Ursula, Klamroth, Robert, Kadar, Janos, Fischer, Ronald, Kemkes-Matthes, Bettina, Oldenburg, Johannes
Published in Thrombosis and haemostasis (01.08.2012)
Published in Thrombosis and haemostasis (01.08.2012)
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Genetic Analysis of Adult-Onset Autoimmune Diabetes
Howson, Joanna M.M., Rosinger, Silke, Smyth, Deborah J., Boehm, Bernhard O., Todd, John A.
Published in Diabetes (New York, N.Y.) (01.10.2011)
Published in Diabetes (New York, N.Y.) (01.10.2011)
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Genetic analysis of Southern Brazil subjects using the PowerSeq™ AUTO/Y system for short tandem repeat sequencing
Silva, Deborah S.B.S., Sawitzki, Fernanda R., Scheible, Melissa K.R., Bailey, Sarah F., Alho, Clarice S., Faith, Seth A.
Published in Forensic science international : genetics (01.03.2018)
Published in Forensic science international : genetics (01.03.2018)
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Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China
He, Sheng, Qin, Qian, Yi, Shang, Wei, Yuan, Lin, Li, Chen, Shaoke, Deng, Jianping, Xu, Xianmin, Zheng, Chenguang, Chen, Biyan
Published in Gene (01.07.2017)
Published in Gene (01.07.2017)
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Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
Holtz, A.P., Souza, L.T., Ribeiro, E.M., Acosta, A.X., Lago, R.M.R.S., Simoni, G., Llerena, J.C., Félix, T.M.
Published in Bone (New York, N.Y.) (01.04.2023)
Published in Bone (New York, N.Y.) (01.04.2023)
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Genetic Analysis Reveals That C₁₉-GA 2-Oxidation Is a Major Gibberellin Inactivation Pathway in Arabidopsis
Rieu, Ivo, Eriksson, Sven, Powers, Stephen J, Gong, Fan, Griffiths, Jayne, Woolley, Lindsey, Benlloch, Reyes, Nilsson, Ove, Thomas, Stephen G, Hedden, Peter, Phillips, Andrew L
Published in The Plant cell (01.09.2008)
Published in The Plant cell (01.09.2008)
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A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
Carmona, F. David, Mackie, Sarah L., Martín, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castañeda, Santos, Cid, Maria C., Hernández-Rodríguez, José, Prieto-González, Sergio, Solans, Roser, Ramentol-Sintas, Marc, González-Escribano, M. Francisca, Ortiz-Fernández, Lourdes, Morado, Inmaculada C., Narváez, Javier, Miranda-Filloy, José A., Martínez-Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo-Conde, Ana, Madroñero-Vuelta, Ana B., Fernández-Nebro, Antonio, Ordóñez-Cañizares, M. Carmen, Escalante, Begoña, Marí-Alfonso, Begoña, Sopeña, Bernardo, Magro, César, Raya, Enrique, Grau, Elena, Román, José A., de Miguel, Eugenio, López-Longo, F. Javier, Martínez, Lina, Gómez-Vaquero, Carmen, Rodríguez-Rodríguez, Luis, Díaz-López, J. Bernardino, Caminal-Montero, Luis, Monfort, Jordi, Tío, Laura, Alegre-Sancho, Juan J., Sáez-Comet, Luis, Pérez-Conesa, Mercedes, Corbera-Bellalta, Marc, Fernández-Contreras, M. Encarnación, Sanchez-Pernaute, Olga, Blanco, Ricardo, Ortego-Centeno, Norberto, Ríos-Fernández, Raquel, Callejas, José L., Fanlo-Mateo, Patricia, Martínez-Taboada, Víctor M., Lunardi, Claudio, Cimmino, Marco A., Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Franke, Andre, Molberg, Øyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Ytterberg, Steven R., Gregersen, Peter K., Pease, Colin T., Gough, Andrew, Green, Michael, Hordon, Lesley, Jarrett, Stephen, Watts, Richard, Levy, Sarah, Patel, Yusuf, Kamath, Sanjeet, Dasgupta, Bhaskar, Worthington, Jane, Koeleman, Bobby P.C., de Bakker, Paul I.W., Barrett, Jennifer H., Merkel, Peter A., González-Gay, Miguel A., Morgan, Ann W., Martín, Javier
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia
Xu, Zhen, Hu, Lanping, Liu, Yinyin, Peng, Can, Zeng, Guo, Zeng, Li, Yang, Mengyue, Linpeng, Siyuan, Bu, Xiufen, Jiang, Xuanyu, Xie, Tiantian, Chen, Libao, Zhou, Shihao, He, Jun
Published in Archives of pathology & laboratory medicine (1976) (01.03.2024)
Published in Archives of pathology & laboratory medicine (1976) (01.03.2024)
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Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States
Johnsen, Jill M., Fletcher, Shelley N., Dove, Angela, McCracken, Haley, Martin, Beth K., Kircher, Martin, Josephson, Neil C., Shendure, Jay, Ruuska, Sarah E., Valentino, Leonard A., Pierce, Glenn F., Watson, Crystal, Cheng, Dunlei, Recht, Michael, Konkle, Barbara A.
Published in Journal of thrombosis and haemostasis (01.09.2022)
Published in Journal of thrombosis and haemostasis (01.09.2022)
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