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Carboxypeptidase D deficiency causes hearing loss amenable to treatment 羧肽酶D缺乏导致可治疗的听力损失 Ramzan, Memoona; Ortiz-Vega, Natalie; Zafeer, Mohammad Faraz; Lobato, Amanda G.; Atik, Tahir; Abad, Clemer; Vadgama, Nirmal; Duman, Duygu; Bozan, Nazim; Durmusalioglu, Enise Avci; Greene, Sunny; Guo, Shengru; Tokgoz-Yilmaz, Suna; Yekeduz, Merve Koc; Eminoglu, Fatma Tuba; Aydin, Mehmet; Seyhan, Serhat; Karakikes, Ioannis; Camarena, Vladimir; Robayo, Maria Camila; Canic, Tijana; Bademci, Guney; Wang, Gaofeng; Farooq, Amjad; Joiner, Mei-ling; Walz, Katherina; Eberl, Daniel F.; Nasir, Jamal; Zhai, R. Grace; Tekin, Mustafa 分享 收藏
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Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction (vol 144, 109049, 2025) 遗传分析与多模态成像证实 m.12148 T>C 线粒体变异的致病性导致多系统功能障碍 (vol 144, 109049, 2025) Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏
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Empagliflozin Attenuates Arrhythmias in an iPSC-Based Model of Hypertrophic Cardiomyopathy Ataam, Jennifer Arthur; Belbachir, Nadjet; Perea-Gil, Isaac; Termglinchan, Vittavat; Vadgama, Nirmal; Garg, Priyanka; Ramchandani, Rohin; Gavidia, Alexandra A.; Roura, Santiago; Galvez-Monton, Carolina; Wu, Joseph C.; Bayes-Genis, Antoni; Karakikes, Ioannis 分享 收藏
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Isoform changes of action potential regulators in the ventricles of arrhythmogenic phospholamban-R14del humanized mouse hearts Rogalska, Malgorzata E.; Vafiadaki, Elizabeth; Erpapazoglou, Zoi; Haghighi, Kobra; Green, Lisa; Mantzoros, Christos S.; Hajjar, Roger J.; Tranter, Michael; Karakikes, Ioannis; Kranias, Evangelia G.; Stillitano, Francesca; Kafasla, Panagiota; Sanoudou, Despina 分享 收藏
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Elaborating Safety Margins To Predict Drug Proarrhythmia Using Deep Learning And Patient-derived IPSCs. Serrano, Ricardo; Feyen, Dries; Bruyneel, Arne A.; Hnatiuk, Anna Hnatiuk; Vu, Michelle; Amatya, Prashila; Gil, Isaac Perea; Prado, Maricela; Seeger, Timon; Wu, Joseph C.; Karakikes, Ioannis; Mercola, Mark 分享 收藏
Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy 丝氨酸生物合成作为扩张型心肌病的新治疗靶点 Perea-Gil, Isaac; Seeger, Timon; Bruyneel, Arne A. N.; Termglinchan, Vittavat; Monte, Emma; Lim, Esther W.; Vadgama, Nirmal; Furihata, Takaaki; Gavidia, Alexandra A.; Ataam, Jennifer Arthur; Bharucha, Nike; Martinez-Amador, Noel; Ameen, Mohamed; Nair, Pooja; Serrano, Ricardo; Kaur, Balpreet; Feyen, Dries A. M.; Diecke, Sebastian; Snyder, Michael P.; Metallo, Christian M.; Mercola, Mark; Karakikes, Ioannis 分享 收藏
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice Bademci, Guney; Lachgar-Ruiz, Maria; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Baylan, Muzeyyen Yildirim; Ingham, Neil J.; Chen, Jing; Sineni, Claire J.; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P.; Chioza, Barry A.; Walz, Katherina; Steel, Karen P.; Nasir, Jamal; Tekin, Mustafa 分享 收藏
Insulin Growth Factor Phenotypes in Heart Failure With Preserved Ejection Fraction, an INSPIRE Registry and CATHGEN Study Haddad, Francois; Ataam, Jennifer Arthur; Amsallem, Myriam; Cauwenberghs, Nicholas; Kuznetsova, Tatiana; Rosenberg-Hasson, Yael; Zamanian, Roham T.; Karakikes, Ioannis; Horne, Benjamin D.; Muhlestein, Joseph B.; Kwee, Lydia; Shah, Svati; Maecker, Holden; Knight, Stacey; Knowlton, Kirk 分享 收藏