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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Blood-based gene-expression biomarkers of post-traumatic stress disorder among deployed marines: A pilot study
Tylee, Daniel S., Chandler, Sharon D., Nievergelt, Caroline M., Liu, Xiaohua, Pazol, Joel, Woelk, Christopher H., Lohr, James B., Kremen, William S., Baker, Dewleen G., Glatt, Stephen J., Tsuang, Ming T.
Published in Psychoneuroendocrinology (01.01.2015)
Published in Psychoneuroendocrinology (01.01.2015)
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Salbutamol in 5q spinal muscular atrophy: a systematic review and meta-analysis of efficacy and safety
Xing, Xiaodong, Zhao, Shuyan, Jiang, Ruoyu, Jiang, Wengao
Published in European journal of pediatrics (24.05.2025)
Published in European journal of pediatrics (24.05.2025)
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Blood-based gene-expression predictors of PTSD risk and resilience among deployed marines: A pilot study
Glatt, Stephen J., Tylee, Daniel S., Chandler, Sharon D., Pazol, Joel, Nievergelt, Caroline M., Woelk, Christopher H., Baker, Dewleen G., Lohr, James B., Kremen, William S., Litz, Brett T., Tsuang, Ming T.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
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Long-Read Sequencing – A Powerful Tool in Viral Transcriptome Research
Boldogkői, Zsolt, Moldován, Norbert, Balázs, Zsolt, Snyder, Michael, Tombácz, Dóra
Published in Trends in microbiology (Regular ed.) (01.07.2019)
Published in Trends in microbiology (Regular ed.) (01.07.2019)
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Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
Helmken, Claudia, Hofmann, Yvonne, Schoenen, Frank, Oprea, Gabriela, Raschke, Heidrun, Rudnik-Sch neborn, Sabine, Zerres, Klaus, Wirth, Brunhilde
Published in Human genetics (01.12.2003)
Published in Human genetics (01.12.2003)
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Human liver cytochrome P450 2D6 genotype, full-length messenger ribonucleic acid, and activity assessed with a novel cytochrome P450 2D6 substrate
McConnachie, Lisa, Bodor, Miklos, Kowdley, Kris, Levy, Adam, Tung, Bruce, Thummel, Kenneth, Phillips, Brian, Bajpai, Manoj, Chi, Victor, Esmay, Joel D, Shen, Danny D, Ho, Rodney J Y
Published in Clinical pharmacology and therapeutics (01.04.2004)
Published in Clinical pharmacology and therapeutics (01.04.2004)
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Germinal centre CD4+ T cells are an important site of HIV replication in vivo
Hufert, Frank T., van Lunzen, Jan, Janossy, George, Bertram, Sylvia, Schmitz, Jörn, Haller, Otto, Racz, Paul, von Laer, Dorothee
Published in AIDS (London) (01.06.1997)
Published in AIDS (London) (01.06.1997)
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Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line
TOMKINS, J., FOX, M., LOVEGROVE, J. U., PARRINGTON, J., HOPKINSON, D. A., WHITEHOUSE, D. B.
Published in Annals of human genetics (01.03.1997)
Published in Annals of human genetics (01.03.1997)
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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Stergachis, Andrew B, Blue, Elizabeth E, Gillentine, Madelyn A, Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y, Khan, Alyna T, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy, Rosenthal, Elisabeth A, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Tran, Thao T, Wener, Mark, Byers, Peter H, Nelson, Stanley F, Bamshad, Michael J, Dipple, Katrina M, Jarvik, Gail P, Hoppins, Suzanne, Hisama, Fuki M
Published in bioRxiv (07.02.2023)
Published in bioRxiv (07.02.2023)
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Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms
Cardo, Lucía F., Coto, Eliecer, de Mena, Lorena, Ribacoba, René, Mata, Ignacio F., Menéndez, Manuel, Moris, Germán, Alvarez, Victoria
Published in Neuroscience letters (06.03.2014)
Published in Neuroscience letters (06.03.2014)
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Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain
Kiianitsa, Kostantin, Kurtz, Irina, Beeman, Neal, Matsushita, Mark, Chien, Wei‐Ming, Raskind, Wendy H., Korvatska, Olena
Published in Journal of leukocyte biology (01.11.2021)
Published in Journal of leukocyte biology (01.11.2021)
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CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutation
Phuan, Puay-Wah, Haggie, Peter M., Tan, Joseph A., Rivera, Amber A., Finkbeiner, Walter E., Nielson, Dennis W., Thomas, Merlin M., Janahi, Ibrahim A., Verkman, Alan S.
Published in Journal of cystic fibrosis (01.05.2021)
Published in Journal of cystic fibrosis (01.05.2021)
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Familial Dilated Cardiomyopathy: A Novel MED9 Short Isoform Identification
Franzese, Monica, Zanfardino, Mario, Soricelli, Andrea, Coppola, Annapaola, Maiello, Ciro, Salvatore, Marco, Schiano, Concetta, Napoli, Claudio
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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A common intronic single nucleotide variant modifies PKD1 expression level
Zhang, Zhengmao, Blumenfeld, Jon, Ramnauth, Andrew, Barash, Irina, Zhou, Pengbo, Levine, Daniel, Parker, Thomas, Rennert, Hanna
Published in Clinical genetics (01.12.2022)
Published in Clinical genetics (01.12.2022)
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RNA-binding protein regulates plant DNA methylation by controlling mRNA processing at the intronic heterochromatin-containing gene IBM1
Wang, Xingang, Duan, Cheng-Guo, Tang, Kai, Wang, Bangshing, Zhang, Huiming, Lei, Mingguang, Lu, Kun, Mangrauthia, Satendra K., Wang, Pengcheng, Zhu, Guohui, Zhao, Yang, Zhu, Jian-Kang
Published in Proceedings of the National Academy of Sciences - PNAS (17.09.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (17.09.2013)
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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