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The effect of media aids in genetic carrier screening education among patients with infertility
Gordon, Annabelle, Leonard, Anthony, Thakore, Suruchi, Peterson, Kurt, Hurley, Emily, Sax, Megan
Published in F&S Reports (Online) (01.03.2025)
Published in F&S Reports (Online) (01.03.2025)
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Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B., Lee, Ming K., Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
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Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions
Miller, Aaron C., Comellas, Alejandro P., Hornick, Douglas B., Stoltz, David A., Cavanaugh, Joseph E., Gerke, Alicia K., Welsh, Michael J., Zabner, Joseph, Polgreen, Philip M.
Published in Proceedings of the National Academy of Sciences - PNAS (21.01.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (21.01.2020)
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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin
Published in EBioMedicine (01.09.2017)
Published in EBioMedicine (01.09.2017)
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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
Rana, Huma Q, Gelman, Rebecca, LaDuca, Holly, McFarland, Rachel, Dalton, Emily, Thompson, Jennifer, Speare, Virginia, Dolinsky, Jill S, Chao, Elizabeth C, Garber, Judy E
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
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Laboratory diagnosis of thalassemia
Brancaleoni, V., Di Pierro, E., Motta, I., Cappellini, M. D.
Published in International journal of laboratory hematology (01.05.2016)
Published in International journal of laboratory hematology (01.05.2016)
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Amyloid imaging results from the Australian Imaging, Biomarkers and Lifestyle (AIBL) study of aging
Rowe, Christopher C., Ellis, Kathryn A., Rimajova, Miroslava, Bourgeat, Pierrick, Pike, Kerryn E., Jones, Gareth, Fripp, Jurgen, Tochon-Danguy, Henri, Morandeau, Laurence, O'Keefe, Graeme, Price, Roger, Raniga, Parnesh, Robins, Peter, Acosta, Oscar, Lenzo, Nat, Szoeke, Cassandra, Salvado, Olivier, Head, Richard, Martins, Ralph, Masters, Colin L., Ames, David, Villemagne, Victor L.
Published in Neurobiology of aging (01.08.2010)
Published in Neurobiology of aging (01.08.2010)
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Rate of manifesting carriers and other unexpected findings on carrier screening
Clevenger, Sydney K., Brandt, Justin S., Khan, Shama P., Shingala, Pranali, Carrick, Jillian, Aluwalia, Ruchi, Heiman, Gary A., Ashkinadze, Elena
Published in Prenatal diagnosis (01.01.2023)
Published in Prenatal diagnosis (01.01.2023)
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Brain-Derived Neurotrophic Factor Signaling and Subgenual Anterior Cingulate Cortex Dysfunction in Major Depressive Disorder
Tripp, Adam, Oh, Hyunjung, Guilloux, Jean-Philippe, Martinowich, Keri, Lewis, David A., Sibille, Etienne
Published in The American journal of psychiatry (01.11.2012)
Published in The American journal of psychiatry (01.11.2012)
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Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors
Shu, Michael, Malcolmson, Caroline, Bosch, Alessandra, Markovic, Teodora, Wakefield, Cindy, Bouskill, Vanessa, Carcao, Manuel
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2024)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2024)
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SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
Chudasama, Kishan Kumar, Winnay, Jonathon, Johansson, Stefan, Claudi, Tor, König, Rainer, Haldorsen, Ingfrid, Johansson, Bente, Woo, Ju Rang, Aarskog, Dagfinn, Sagen, Jørn V., Kahn, C. Ronald, Molven, Anders, Njølstad, Pål Rasmus
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients
Pfister, Edith L., Kennington, Lori, Straubhaar, Juerg, Wagh, Sujata, Liu, Wanzhou, DiFiglia, Marian, Landwehrmeyer, Bernhard, Vonsattel, Jean-Paul, Zamore, Phillip D., Aronin, Neil
Published in Current biology (12.05.2009)
Published in Current biology (12.05.2009)
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Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
Gao, Shanshan, Wu, Dongping, Liu, Shuai, Shen, Yanlong, Zhao, Zhehao, Wang, Yanhua, Kong, Xiangdong
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos
Dimitriadou, Eftychia, Melotte, Cindy, Debrock, Sophie, Esteki, Masoud Zamani, Dierickx, Kris, Voet, Thierry, Devriendt, Koen, de Ravel, Thomy, Legius, Eric, Peeraer, Karen, Meuleman, Christel, Vermeesch, Joris Robert
Published in Human reproduction (Oxford) (01.03.2017)
Published in Human reproduction (Oxford) (01.03.2017)
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The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Zhang, Xue, Chen, Qian, Li, Junnan, Luo, Xin, Luo, Jianyun, Li, Jian, Zeng, Ziye, Wu, Yan, Zhang, Hua, Dong, Yanling
Published in Human genomics (31.01.2024)
Published in Human genomics (31.01.2024)
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