Kết quả tìm kiếm - Jin, Sheng Chih
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Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease Bằng Xie, Yuhan, Jiang, Wei, Dong, Weilai, Li, Hongyu, Jin, Sheng Chih, Brueckner, Martina, Zhao, Hongyu
Được phát hành 2022Text -
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A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9 Bằng Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Được phát hành 2018Text -
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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort Bằng Jin, Sheng Chih, Pastor, Pau, Cooper, Breanna, Cervantes, Sebastian, Benitez, Bruno A, Razquin, Cristina, Goate, Alison, Cruchaga, Carlos
Được phát hành 2012Text -
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Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease Bằng Li, Mo, Zeng, Xue, Jin, Chentian, Jin, Sheng Chih, Dong, Weilai, Brueckner, Martina, Lifton, Richard, Lu, Qiongshi, Zhao, Hongyu
Được phát hành 2021Text -
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Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation Bằng Song, Wilbur, Hooli, Basavaraj, Mullin, Kristina, Jin, Sheng Chih, Cella, Marina, Ulland, Tyler K., Wang, Yaming, Tanzi, Rudolph, Colonna, Marco
Được phát hành 2016Text -
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Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy Bằng Bakhtiari, Somayeh, Tafakhori, Abbas, Jin, Sheng Chih, Guida, Brandon S., Alehabib, Elham, Firouzbadi, Saghar, Bilguvar, Kaya, Fahey, Michael C., Darvish, Hossein, Kruer, Michael C.
Được phát hành 2021Text -
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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease Bằng Benitez, Bruno A., Davis, Albert A., Jin, Sheng Chih, Ibanez, Laura, Ortega-Cubero, Sara, Pastor, Pau, Choi, Jiyoon, Cooper, Breanna, Perlmutter, Joel S., Cruchaga, Carlos
Được phát hành 2016Text -
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SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus Bằng Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.
Được phát hành 2019Text -
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Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability Bằng Lewis, Sara A., Bakhtiari, Somayeh, Heim, Jennifer, Cornejo, Patricia, Liu, James, Huang, Aris, Musmacker, Andrew, Jin, Sheng Chih, Bilguvar, Kaya, Padilla-Lopez, Sergio R., Kruer, Michael C.
Được phát hành 2021Text -
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Mutation spectrum of congenital heart disease in a consanguineous Turkish population Bằng Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina
Được phát hành 2022Text -
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Coding variants in TREM2 increase risk for Alzheimer's disease Bằng Jin, Sheng Chih, Benitez, Bruno A., Karch, Celeste M., Cooper, Breanna, Skorupa, Tara, Carrell, David, Norton, Joanne B., Hsu, Simon, Harari, Oscar, Cai, Yefei, Bertelsen, Sarah, Goate, Alison M., Cruchaga, Carlos
Được phát hành 2014Text -
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De novo MYH9 mutation in congenital scalp hemangioma Bằng Fomchenko, Elena I., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, Erson-Omay, E. Zeynep, Antwi, Prince, Allocco, August, Gaillard, Jonathan R., Huttner, Anita, Gunel, Murat, DiLuna, Michael L., Kahle, Kristopher T.
Được phát hành 2018Text -
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Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility Bằng Robson, Andrew, Makova, Svetlana Z., Barish, Syndi, Zaidi, Samir, Mehta, Sameet, Drozd, Jeffrey, Jin, Sheng Chih, Gelb, Bruce D., Seidman, Christine E., Chung, Wendy K., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina
Được phát hành 2019Text