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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
Mohapatra, Bhagyalaxmi, Casey, Brett, Li, Hua, Ho-Dawson, Trang, Smith, Liana, Fernbach, Susan D., Molinari, Laura, Niesh, Stephen R., Jefferies, John Lynn, Craigen, William J., Towbin, Jeffrey A., Belmont, John W., Ware, Stephanie M.
Published in Human molecular genetics (01.03.2009)
Published in Human molecular genetics (01.03.2009)
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Functional Characterization of Glycoprotein Nonmetastatic Melanoma Protein B in Scleroderma Fibrosis
Palisoc, Pamela J., Vaikutis, Leah, Gurrea-Rubio, Mikel, Model, Ellen N., O’mara, Morgan M., Ory, Sarah, Vichaikul, Sirapa, Khanna, Dinesh, Tsou, Pei-Suen, Sawalha, Amr H.
Published in Frontiers in immunology (24.02.2022)
Published in Frontiers in immunology (24.02.2022)
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Functional characterization of a sex pheromone receptor in the pest moth Spodoptera littoralis by heterologous expression in Drosophila
Montagné, Nicolas, Chertemps, Thomas, Brigaud, Isabelle, François, Adrien, François, Marie-Christine, de Fouchier, Arthur, Lucas, Philippe, Larsson, Mattias C., Jacquin-Joly, Emmanuelle
Published in The European journal of neuroscience (01.09.2012)
Published in The European journal of neuroscience (01.09.2012)
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Functional characterization of naturally occurring genetic variations of the human guanine-rich RNA sequence binding factor 1 (GRSF1)
Sofi, Sajad, Fitzgerald, Julia C., Jähn, Désirée, Dumoulin, Bernhard, Stehling, Sabine, Kuhn, Hartmut, Ufer, Christoph
Published in Biochimica et biophysica acta. General subjects (01.04.2018)
Published in Biochimica et biophysica acta. General subjects (01.04.2018)
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Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia
Andolfo, I., Russo, R., Manna, F., De Rosa, G., Gambale, A., Zouwail, S., Detta, N., Pardo, C. L., Alper, S. L., Brugnara, C., Sharma, A. K., De Franceschi, L., Iolascon, A.
Published in Haematologica (Roma) (01.08.2016)
Published in Haematologica (Roma) (01.08.2016)
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Functional characterization of PhoPR two component system and its implication in regulating phosphate homeostasis in Bacillus anthracis
Aggarwal, Somya, Somani, Vikas Kumar, Gupta, Vatika, Kaur, Jaspreet, Singh, Damini, Grover, Abhinav, Bhatnagar, Rakesh
Published in Biochimica et biophysica acta. General subjects (01.01.2017)
Published in Biochimica et biophysica acta. General subjects (01.01.2017)
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Genome-wide analysis of the apple PLD gene family and a functional characterization of MdPLD17 in drought tolerance
Fang, Sen, Han, Xuanxuan, Yuan, Penghao, Song, Chunhui, Song, Shangwei, Jiao, Jian, Wang, Miaomiao, Zheng, Xianbo, Bai, Tuanhui
Published in Scientia horticulturae (01.11.2023)
Published in Scientia horticulturae (01.11.2023)
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Functional Characterization of 29 Cytochrome P450 4F2 Variants Identified in a Population of 8380 Japanese Subjects and Assessment of Arachidonic Acidω-Hydroxylation
Yu Sato, Eiji Hishinuma, Shuki Yamazaki, Akiko Ueda, Masaki Kumondai, Sakae Saito, Shu Tadaka, Kengo Kinoshita, Tomoki Nakayoshi, Akifumi Oda, Masamitsu Maekawa, Nariyasu Mano, Noriyasu Hirasawa, Masahiro Hiratsuka
Published in Drug Metabolism and Disposition (29.09.2023)
Published in Drug Metabolism and Disposition (29.09.2023)
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Functional characterization of cucumber (Cucumis sativus L.) Clade V MLO genes
Berg, Jeroen A., Appiano, Michela, Bijsterbosch, Gerard, Visser, Richard G. F., Schouten, Henk J., Bai, Yuling
Published in BMC plant biology (21.04.2017)
Published in BMC plant biology (21.04.2017)
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Identification and functional characterization of the extremely long allele of the serotonin transporter-linked polymorphic region
Ikegame, Tempei, Hidaka, Yosuke, Nakachi, Yutaka, Murata, Yui, Watanabe, Risa, Sugawara, Hiroko, Asai, Tatsuro, Kiyota, Emi, Saito, Takeo, Ikeda, Masashi, Sasaki, Tsukasa, Hashimoto, Mamoru, Ishikawa, Tomohisa, Takebayashi, Minoru, Iwata, Nakao, Kakiuchi, Chihiro, Kato, Tadafumi, Kasai, Kiyoto, Bundo, Miki, Iwamoto, Kazuya
Published in Translational psychiatry (11.02.2021)
Published in Translational psychiatry (11.02.2021)
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Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19
Devarajan, Sandhya, Moon, Irene, Ho, Ming-Fen, Larson, Nicholas B., Neavin, Drew R., Moyer, Ann M., Black, John L., Bielinski, Suzette J., Scherer, Steven E., Wang, Liewei, Weinshilboum, Richard M., Reid, Joel M.
Published in Drug metabolism and disposition (01.04.2019)
Published in Drug metabolism and disposition (01.04.2019)
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New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations
Herrera-Hernández, María Guadalupe, Razzaghi, Neda, Fernandez-Gonzalez, Pol, Bosch-Presegué, Laia, Vila-Julià, Guillem, Pérez, Juan Jesús, Garriga, Pere
Published in Cellular and molecular life sciences : CMLS (01.01.2022)
Published in Cellular and molecular life sciences : CMLS (01.01.2022)
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Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion
Sertedaki, Amalia, Markou, Athina, Vlachakis, Dimitrios, Kossida, Sophia, Campanac, Emilie, Hoffman, Dax A., Sierra, Maria De La Luz, Xekouki, Paraskevi, Stratakis, Constantine A., Kaltsas, Gregory, Piaditis, George P., Chrousos, George P., Charmandari, Evangelia
Published in Clinical endocrinology (Oxford) (01.12.2016)
Published in Clinical endocrinology (Oxford) (01.12.2016)
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Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia
Al Eissa, Mariam M., Sharp, Sally I., O'Brien, Niamh L., Fiorentino, Alessia, Bass, Nicholas J., Curtis, David, McQuillin, Andrew
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2019)
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