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New Exome Data Question the Pathogenicity of Genetic Variants Previously Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
Jabbari, Javad, Jabbari, Reza, Nielsen, Morten W., Holst, Anders G., Nielsen, Jonas B., Haunsø, Stig, Tfelt-Hansen, Jacob, Svendsen, Jesper H., Olesen, Morten S.
Published in Circulation. Cardiovascular genetics (01.10.2013)
Published in Circulation. Cardiovascular genetics (01.10.2013)
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China,Germany : QIAGEN agrees with BGI Tech to provide services based on the Human Gene Mutation Database (HGMD) in Greater China
Published in MENA Report
(01.08.2014)
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Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study
Manderstedt, Eric, Lind‐Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Dahlbäck, Björn, Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D, Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E, Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H, Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J, Maxwell, Evan K, Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C, Jones, Marcus B, Mighty, Jason, Mitnaul, Lyndon J
Published in Journal of the American Heart Association (15.02.2022)
Published in Journal of the American Heart Association (15.02.2022)
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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
Ølnes, Åsa Schawlann, Teigen, Marianne, Laerdahl, Jon K., Leren, Trond P., Strøm, Thea Bismo, Bjune, Katrine
Published in PloS one (01.12.2023)
Published in PloS one (01.12.2023)
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Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis
Inoue, Seiya, Kondo, Atsushi, Inoki, Yuta, Ichikawa, Yuta, Tanaka, Yu, Ueda, Chika, Kitakado, Hideaki, Suzuki, Ryota, Okada, Eri, Sakakibara, Nana, Horinouchi, Tomoko, Nozu, Kandai
Published in Clinical and experimental nephrology (01.11.2024)
Published in Clinical and experimental nephrology (01.11.2024)
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A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia
Tada, Hayato, Hori, Mika, Nomura, Akihiro, Hosomichi, Kazuyoshi, Nohara, Atsushi, Kawashiri, Masa-aki, Harada-Shiba, Mariko
Published in Journal of clinical lipidology (01.05.2020)
Published in Journal of clinical lipidology (01.05.2020)
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Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
Lopes-Marques, Mónica, Mort, Matthew, Carneiro, João, Azevedo, António, Amaro, Andreia P., Cooper, David N., Azevedo, Luísa
Published in Human genomics (23.02.2024)
Published in Human genomics (23.02.2024)
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Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1
Stella, Alessandro, Lastella, Patrizia, Loconte, Daria Carmela, Bukvic, Nenad, Varvara, Dora, Patruno, Margherita, Bagnulo, Rosanna, Lovaglio, Rosaura, Bartolomeo, Nicola, Serio, Gabriella, Resta, Nicoletta
Published in Genes (17.04.2018)
Published in Genes (17.04.2018)
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Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review
Che, Fengyu, Li, Chenhao, Zhang, Liyu, Qian, Chenxi, Mo, Lidangzhi, Li, Benchang, Wu, Haibin, Wang, Lifang, Yang, Ying
Published in Journal of applied genetics (01.05.2024)
Published in Journal of applied genetics (01.05.2024)
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Association of genetic variants of RNF213 with ischemic stroke risk in Koreans
Park, Young Seok, Park, Hyeon Woo, Park, Han Sung, Ryu, Chang Soo, Lee, Jeong Yong, Ko, Eun Ju, Sung, Jung Hoon, Kim, Jinkwon, Kim, Ok Joon, Kim, Nam Keun
Published in Genes & genomics (01.04.2021)
Published in Genes & genomics (01.04.2021)
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Down-regulation of SORL1 is associated with Alzheimer’s disease through activating ABC transporter pathway
Wei, Zhiqiang, Qi, Xingdi, Zhai, Shijun, Chen, Yan, Xia, Xiaoshuang, Zheng, Boyu, Sun, Xugang, Zhang, Guangming, Wang, Ling, Zhang, Qi, Xu, Chen, Jiang, Shihe, Li, Xiulian, Xie, Bingxin, Liao, Xiaohui, Ai, Zhu, Li, Xin
Published in Zeitschrift für Naturforschung C. A journal of biosciences (26.05.2021)
Published in Zeitschrift für Naturforschung C. A journal of biosciences (26.05.2021)
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NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report
Iafusco, Fernanda, Maione, Giovanna, Mazzaccara, Cristina, Di Candia, Francesca, Mozzillo, Enza, Franzese, Adriana, Tinto, Nadia
Published in Diagnostics (Basel) (25.06.2021)
Published in Diagnostics (Basel) (25.06.2021)
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Pathway networks generated from human disease phenome
Cirincione, Ann G., Clark, Kaylyn L., Kann, Maricel G.
Published in BMC medical genomics (14.09.2018)
Published in BMC medical genomics (14.09.2018)
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome
Kulkarni, Vinayak, Errami, Mounir, Barber, Robert, Garner, Harold R
Published in BMC bioinformatics (12.08.2008)
Published in BMC bioinformatics (12.08.2008)
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Longitudinal Early‐onset Alzheimer’s Disease Study (LEADS) genetic screening: Initial results
Nudelman, Kelly N. H., Abreu, Marco, Eloyan, Ani, Rumbaugh, Malia C., Faber, Kelley M., Wilmes, Kristi, Schwantes‐An, Tae‐Hwi, Rabinovici, Gil D., Carrillo, Maria C., Dickerson, Brad C., Saykin, Andrew J., Wingo, Thomas S., Foroud, Tatiana M., Apostolova, Liana G.
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Identification of Molecular Defects in ITGA2B and ITGB3 Genes and Phenotypic Correlation in Pakistani Patients with Glanzmann Thrombasthenia
Jamal, Yonus, Ahmed, Shariq, Najmuddin, Akbar, Imran, Ayisha, Khan, Tehmina nafees sonia, Shamsi, Tahir, Naz, Arshi
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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