Search Results - "Dominic"

A Drosophila model of dominant inclusion body myopathy type 3 shows diminished myosin kinetics that reduce muscle power and yield myofibrillar defects by Jennifer A. Suggs, Girish C. Melkani, Bernadette M. Glasheen, Mia M. Detor, Anju Melkani, Nathan P. Marsan, Douglas M. Swank, Sanford I. Bernstein

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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population by Antiñolo Guillermo, Ayuso Carmen, García-Sandoval Blanca, Maseras Miquel, Martínez-Gimeno María, Hernan Imma, Gamundi María, Baiget Montserrat, Carballo Miguel

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Epitope mapping of Ebola virus dominant and subdominant glycoprotein epitopes facilitates construction of an epitope-based DNA vaccine able to focus the antibody response in mice by Daniel A. J. Mitchell, Lesley C. Dupuy, Mariano Sanchez-Lockhart, Gustavo Palacios, Jaap W. Back, Katya Shimanovskaya, Sidhartha Chaudhury, Daniel R. Ripoll, Anders Wallqvist, Connie S. Schmaljohn

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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report by Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

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Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection by Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou

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Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report by Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai

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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy by Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann

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Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy by Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann

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Comparative Efficacy of Pharmacological Treatments for Adults With Autosomal Dominant Polycystic Kidney Disease: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials by Shunichiro Tsukamoto, Shingo Urate, Takayuki Yamada, Takayuki Yamada, Kengo Azushima, Takahiro Yamaji, Takahiro Yamaji, Sho Kinguchi, Kazushi Uneda, Kazushi Uneda, Tomohiko Kanaoka, Hiromichi Wakui, Kouichi Tamura

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Long-Term Experience of a Reference Center on Autosomal Dominant Polycystic Kidney Disease: Associated Demographics, Clinical Presentation, and Kidney Survival in Turkish Population by Tuba Elif Ozler, Sinan Trabulus, Serkan Feyyaz Yalın, Nurhan Seyahi, Mehmet Rıza Altıparmak

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Analysis of Range of Motion and Isokinetic Strength of Internal and External Rotation According to Humeral Retroversion of the Dominant Shoulder in Youth Baseball Players: A Pilot Study. by Soung-Yob Rhi, Wi-Young So

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School development through democratic involvement and group approach in immigrant-dominated areas - experiences from Raadmandsgades Skole and Heimdalsgades Overbygningsskole in Copenhagen city, Denmark by Per Bregengaard, Lise W. Egholm, Ingrid Brandt, Inger M. Clausen

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Real-World Clinical Outcomes of Molnupiravir for the Treatment of Mild to Moderate COVID-19 in Adult Patients during the Dominance of the Omicron Variant: A Meta-Analysis by Chienhsiu Huang, Tsung-Lung Lu, Lichen Lin

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First survey of Enterocytozoon bieneusi and dominant genotype Peru6 among ethnic minority groups in southwestern China's Yunnan Province and assessment of risk factors. by Baiyan Gong, Yaming Yang, Xiaohua Liu, Jianping Cao, Meng Xu, Ning Xu, Fengkun Yang, Fangwei Wu, Benfu Li, Aiqin Liu, Yujuan Shen

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Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL) by Marianthi Tsingos, Laura Merlini, Marco Solcà, Alexandra Goischke, Alexandra Wilhelm-Bals, Paloma Parvex

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Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang

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Application of bioactivity validation as quality control approach: Panax notoginseng dominated scientific-driven new TCM formulae-BPAid from laboratory to industrial scale by Wan Yin Tew, Yean Chun Loh, Chong Seng Yan, Hui Wei Loh, Chen Jingying, Chen Ying, Lee Suan Chua, Guo Longgang, Xu Wen, Xu Wei, Mun Fei Yam

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Medical resource utilization and costs associated with autosomal dominant polycystic kidney disease in the USA: a retrospective matched cohort analysis of private insurer data by Knight T, Schaefer C, Krasa H, Oberdhan D, Chapman A, Perrone RD

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Leg asymmetry and muscle function recovery after anterior cruciate ligament reconstruction in elite athletes: a pilot study on slower recovery of the dominant leg by Sabrine Souissi, Anis Chaouachi, Angus Burnett, Olivier Hue, Ezdine Bouhlel, Moktar Chtara, Karim Chamari

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The Expression Patterns of Cytochrome Oxidase and Immediate-Early Genes Show Absence of Ocular Dominance Columns in the Striate Cortex of Squirrel Monkeys Following Monocular Inactivation by Shuiyu Li, Shuiyu Li, Songping Yao, Songping Yao, Qiuying Zhou, Qiuying Zhou, Toru Takahata, Toru Takahata, Toru Takahata

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