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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Novel Polymorphisms in the Myosin Light Chain Kinase Gene Confer Risk for Acute Lung Injury
Gao, Li, Grant, Audrey, Halder, Indrani, Brower, Roy, Sevransky, Jonathan, Maloney, James P, Moss, Marc, Shanholtz, Carl, Yates, Charles R, Meduri, Gianfranco Umberto, Shriver, Mark D, Ingersoll, Roxann, Scott, Alan F, Beaty, Terri H, Moitra, Jaideep, Ma, Shwu Fan, Ye, Shui Q, Barnes, Kathleen C, Garcia, Joe G. N
Published in American journal of respiratory cell and molecular biology (01.04.2006)
Published in American journal of respiratory cell and molecular biology (01.04.2006)
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Heterozygote Genotypes at rs2222823 and rs2811712 SNP Loci are Associated with Cerebral Small Vessel Disease in Han Chinese Population
Li, Wei, Hu, Bo, Li, Gui-Lin, Zhao, Xing-Quan, Xin, Bao-Zhong, Lin, Jin-Xi, Shen, Yuan, Liang, Xian-Hong, Liu, Gai-Fen, Gao, Han-Qing, Liao, Xiao-Ling, Liang, Zhi-Gang, Wang, Yong-Jun
Published in CNS neuroscience & therapeutics (01.07.2012)
Published in CNS neuroscience & therapeutics (01.07.2012)
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Epigenetic contribution of the myosin light chain kinase gene to the risk for acute respiratory distress syndrome
Szilágyi, Keely L., Liu, Cong, Zhang, Xu, Wang, Ting, Fortman, Jeffrey D., Zhang, Wei, Garcia, Joe G.N.
Published in Translational research : the journal of laboratory and clinical medicine (01.02.2017)
Published in Translational research : the journal of laboratory and clinical medicine (01.02.2017)
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Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma
Christie, Jason D, Ma, Shwu-Fan, Aplenc, Richard, Li, Mingyao, Lanken, Paul N, Shah, Chirag V, Fuchs, Barry, Albelda, Steven M, Flores, Carlos, Garcia, Joe G N
Published in Critical care medicine (01.10.2008)
Published in Critical care medicine (01.10.2008)
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The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review
Cree, Ian A., Uttley, Lesley, Buckley Woods, Helen, Kikuchi, Hugh, Reiman, Anne, Harnan, Susan, Whiteman, Becky L., Philips, Sian Taylor, Messenger, Michael, Cox, Angela, Teare, Dawn, Sheils, Orla, Shaw, Jacqui
Published in BMC cancer (23.10.2017)
Published in BMC cancer (23.10.2017)
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Proteomics and Phosphoproteomics of Circulating Extracellular Vesicles Provide New Insights into Diabetes Pathobiology
Nunez Lopez, Yury O., Iliuk, Anton, Petrilli, Alejandra M., Glass, Carley, Casu, Anna, Pratley, Richard E.
Published in International journal of molecular sciences (21.05.2022)
Published in International journal of molecular sciences (21.05.2022)
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Assessment of Autozygosity Derived From Runs of Homozygosity in Jinhua Pigs Disclosed by Sequencing Data
Xu, Zhong, Sun, Hao, Zhang, Zhe, Zhao, Qingbo, Olasege, Babatunde Shittu, Li, Qiumeng, Yue, Yang, Ma, Peipei, Zhang, Xiangzhe, Wang, Qishan, Pan, Yuchun
Published in Frontiers in genetics (28.03.2019)
Published in Frontiers in genetics (28.03.2019)
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Genotype Analysis of Adolescents with Heavy Menstrual Bleeding and Low Von Willebrand Activity - Report of a Multi-Center Study
Sadler, Brooke, Minard, Charles, Haller, Gabe, Gurnett, Christina, O'Brien, Sarah H., Wheeler, Allison P., Mullins, Eric S., Sharma, Mukta, Sidonio, Robert F., Jain, Shilpa, Zia, Ayesha, Ragni, Margaret V., Kulkarni, Roshni, Dietrich, Jennifer, Kouides, Peter A., Di Paola, Jorge, Srivaths, Lakshmi
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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Next generation sequencing analysis of patients with familial cervical artery dissection
Grond-Ginsbach, Caspar, Brandt, Tobias, Kloss, Manja, Aksay, Suna Su, Lyrer, Philipp, Traenka, Christopher, Erhart, Philipp, Martin, Juan Jose, Altintas, Ayse, Siva, Aksel, de Freitas, Gabriel R, Thie, Andreas, Machetanz, Jochen, Baumgartner, Ralf W, Dichgans, Martin, Engelter, Stefan T
Published in European stroke journal (01.06.2017)
Published in European stroke journal (01.06.2017)
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High polygenic burden is associated with blood DNA methylation changes in individuals with suicidal behavior
Cabrera-Mendoza, Brenda, Martínez-Magaña, José Jaime, Genis-Mendoza, Alma Delia, Sarmiento, Emmanuel, Ruíz-Ramos, David, Tovilla-Zárate, Carlos Alfonso, González-Castro, Thelma Beatriz, Juárez-Rojop, Isela Esther, García-de la Cruz, Dulce Dajheanne, López-Armenta, Mauro, Real, Fernanda, García-Dolores, Fernando, Flores, Gonzalo, Vázquez-Roque, Rubén Antonio, Lanzagorta, Nuria, Escamilla, Michael, Saucedo‐Uribe, Erasmo, Rodríguez-Mayoral, Oscar, Jiménez-Genchi, Janet, Castañeda-González, Carlos, Roche-Bergua, Andrés, Nicolini, Humberto
Published in Journal of psychiatric research (01.04.2020)
Published in Journal of psychiatric research (01.04.2020)
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A cortactin CTTN coding SNP contributes to lung vascular permeability and inflammatory disease severity in African descent subjects
Belvitch, Patrick, Casanova, Nancy, Sun, Xiaoguang, Camp, Sara M., Sammani, Saad, Brown, Mary E., Mascarhenas, Joseph, Lynn, Heather, Adyshev, Djanybek, Siegler, Jessica, Desai, Ankit, Seyed-Saadat, Laleh, Rizzo, Alicia, Bime, Christian, Shekhawat, Gajendra S., Dravid, Vinayak P., Reilly, John P., Jones, Tiffanie K., Feng, Rui, Letsiou, Eleftheria, Meyer, Nuala J., Ellis, Nathan, Garcia, Joe G.N., Dudek, Steven M.
Published in Translational research : the journal of laboratory and clinical medicine (01.06.2022)
Published in Translational research : the journal of laboratory and clinical medicine (01.06.2022)
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2014 Combined Annual Meeting Abstracts Subject Index
Published in Journal of investigative medicine
(01.04.2014)
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Midwestern Regional Meeting Abstracts Subject Index
Published in Journal of investigative medicine
(01.04.2012)
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175Aortopathy-causing mutations increase aortic stiffness in healthy individuals
Francis, Catherine, Marvao, Antonio de, O'Regan, Declan P, Dawes, Timothy JW, Alenaini, Wareed, Gandhi, Ajay, Quinlan, Marina, Buchan, Rachel, Barton, Paul J, Walsh, Roddy, John, Shibu, Cook, Stuart A
Published in Heart (British Cardiac Society) (01.06.2015)
Published in Heart (British Cardiac Society) (01.06.2015)
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175 Aortopathy-causing mutations increase aortic stiffness in healthy individuals
Francis, Catherine, Marvao, Antonio de, O'Regan, Declan P, Dawes, Timothy JW, Alenaini, Wareed, Gandhi, Ajay, Quinlan, Marina, Buchan, Rachel, Barton, Paul J, Walsh, Roddy, John, Shibu, Cook, Stuart A
Published in Heart (British Cardiac Society) (01.06.2015)
Published in Heart (British Cardiac Society) (01.06.2015)
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