Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
Vögtle, F.-Nora, Brändl, Björn, Larson, Austin, Pendziwiat, Manuela, Friederich, Marisa W., White, Susan M., Basinger, Alice, Kücükköse, Cansu, Muhle, Hiltrud, Jähn, Johanna A., Keminer, Oliver, Helbig, Katherine L., Delto, Carolyn F., Myketin, Lisa, Mossmann, Dirk, Burger, Nils, Miyake, Noriko, Burnett, Audrey, van Baalen, Andreas, Lovell, Mark A., Matsumoto, Naomichi, Walsh, Maie, Yu, Hung-Chun, Shinde, Deepali N., Stephani, Ulrich, Van Hove, Johan L.K., Müller, Franz-Josef, Helbig, Ingo
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms
Demarest, Scott, Calhoun, Jeff, Eschbach, Krista, Yu, Hung‐Chun, Mirsky, David, Angione, Katie, Shaikh, Tamim H, Carvill, Gemma L, Benke, Tim A, Geiger, Elizabeth A, Gunti, Jonathan, Vanderveen, Gina
Published in Developmental medicine and child neurology (01.05.2022)
Published in Developmental medicine and child neurology (01.05.2022)
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An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Shomorony, Ilan, Cirulli, Elizabeth T, Huang, Lei, Napier, Lori A, Heister, Robyn R, Hicks, Michael, Cohen, Isaac V, Yu, Hung-Chun, Swisher, Christine Leon, Schenker-Ahmed, Natalie M, Li, Weizhong, Nelson, Karen E, Brar, Pamila, Kahn, Andrew M, Spector, Timothy D, Caskey, C Thomas, Venter, J Craig, Karow, David S, Kirkness, Ewen F, Shah, Naisha
Published in Genome medicine (10.01.2020)
Published in Genome medicine (10.01.2020)
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Effectiveness of palliative care consultation service on caregiver burden over time between terminally ill cancer and non-cancer family caregivers
Wu, Li-Fen, Lin, Chin, Hung, Yu-Chun, Chang, Li-Fang, Ho, Ching-Liang, Pan, Hsueh-Hsing
Published in Supportive care in cancer (01.12.2020)
Published in Supportive care in cancer (01.12.2020)
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Construct the Optimum Process Model for Transistor Gaskets with Six-Sigma DMAIC
Chen, Kuen-Suan, Ye, Guo-Ping, Yu, Chun-Min, Yu, Chun-Hung
Published in Applied sciences (01.06.2023)
Published in Applied sciences (01.06.2023)
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Genome-wide copy number variations in a large cohort of bantu African children
Yilmaz, Feyza, Null, Megan, Astling, David, Yu, Hung-Chun, Cole, Joanne, Santorico, Stephanie A, Hallgrimsson, Benedikt, Manyama, Mange, Spritz, Richard A, Hendricks, Audrey E, Shaikh, Tamim H
Published in BMC medical genomics (17.05.2021)
Published in BMC medical genomics (17.05.2021)
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christopher A, Swanson, Michael A, Minczuk, Michal, Van Hove, Johan L K, Shaikh, Tamim H
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Phosphoproteomics and Bioinformatics Analyses Reveal Key Roles of GSK-3 and AKAP4 in Mouse Sperm Capacitation
Syifa, Nailis, Yang, Jhih-Tian, Wu, Chang-Shiann, Lin, Miao-Hsia, Wu, Wan-Ling, Lai, Cheng-Wei, Ku, Sheng-Hsuan, Liang, Suh-Yuen, Hung, Yu-Chun, Chou, Chia-Te, Wang, Chien-Sheng, Ishihama, Yasushi, Liao, Jiahn-Haur, Wu, Shih-Hsiung, Wu, Tzu-Hua
Published in International journal of molecular sciences (01.10.2020)
Published in International journal of molecular sciences (01.10.2020)
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Antibacterial Surgical Sutures Developed Using Electrostatic Yarn Wrapping Technology
Lou, Ching-Wen, Hung, Chun-Yu, Wei, Mengdan, Li, Tingting, Shiu, Bing-Chiuan, Lin, Jia-Horng
Published in Journal of functional biomaterials (28.04.2023)
Published in Journal of functional biomaterials (28.04.2023)
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Performance Management Decision-Making Model: Case Study on Foreign Language Learning Curriculums
Chen, Kuen-Suan, Chun-Min, Yu, Chun-Hung, Yu, Chen, Yen-Po
Published in Information (Basel) (01.08.2024)
Published in Information (Basel) (01.08.2024)
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Inpatient Hospice Palliative Care Unit and Palliative Consultation Service Enhance Comprehensive Quality of Life Outcomes in Terminally Ill Cancer Patients: A Prospective Longitudinal Study
Chang, Li-Fang, Wu, Li-Fen, Lin, Chi-Kang, Ho, Ching-Liang, Hung, Yu-Chun, Pan, Hsueh-Hsing
Published in International journal of environmental research and public health (26.08.2021)
Published in International journal of environmental research and public health (26.08.2021)
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Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
Reyes-Nava, Nayeli G, Hung-Chun, Yu, Coughlin, Curtis R, Shaikh, Tamim H, Quintana, Anita M
Published in Biology open (01.04.2020)
Published in Biology open (01.04.2020)
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Effect of Platelet-Rich Plasma Augmentation on Endoscopy-Assisted Percutaneous Achilles Tendon Repair
Hung, Chun-Yu, Lin, Shih-Jie, Yeh, Chia-Yi, Yeh, Wen-Ling
Published in Journal of clinical medicine (14.09.2022)
Published in Journal of clinical medicine (14.09.2022)
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Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas
Saari, Jonathan, Lovell, Mark A., Yu, Hung-Chun, Bellus, Gary A.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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The Effect of Practice toward Do-Not-Resuscitate among Taiwanese Nursing Staff Using Path Modeling
Wu, Li-Fen, Chang, Li-Fang, Hung, Yu-Chun, Lin, Chin, Tzou, Shiow-Jyu, Chou, Lin-Ju, Pan, Hsueh-Hsing
Published in International journal of environmental research and public health (31.08.2020)
Published in International journal of environmental research and public health (31.08.2020)
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An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B
Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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