Arama Sonuçları - "phenotyping"

Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort Yazar: Sebastián Jaurretche, Santiago Alonso, Mónica Calvo, Sebastián Fernandez, Heber Figueredo, Beatriz Galli, Ivanna Marin, Andrés Martinez, Silvia Mattausch, Fernando Perretta, Juan Politei, Juan Ignacio Rolon, Esteban Calabrese

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Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China Yazar: Wei Wang, Tiannan Zhang, Wenjie Zheng, Linqing Zhong, Lin Wang, Ji Li, Qian Liu, Yanqing Dong, Hongmei Song

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The Evaluation of Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Yazar: Melih Hangül, Abdullah Gurler

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Neonatal adrenal insufficiency - beyond the common causes Yazar: Inês Pires Duro, Sara Mosca, Graça Araújo, Joana Lorenzo, Catarina Figueiredo, Joana Freitas, Maria João Oliveira, Teresa Borges

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Neuronal loss of TRPM8 leads to obesity and glucose intolerance in male mice Yazar: D. Liskiewicz, Q. Zhang, C.S. Barthem, M. Jastroch, A. Liskiewicz, N. Khajavi, G. Grandl, C. Coupland, M. Kleinert, C. Garcia-Caceres, A. Novikoff, G. Maity, U. Boehm, M.H. Tschöp, T.D. Müller

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Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis Yazar: Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

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Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes Yazar: Hua Li, Wei Wang, Wei Wang, Xiaodi Han, Yujia Zhang, Lifang Dai, Manting Xu, Jie Deng, Changhong Ding, Xiaohui Wang, Chunhong Chen, Xiaofeng Yang, Fang Fang

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Panax Ginseng C.A.Mey. as Medicine: The Potential Use of Panax Ginseng C.A.Mey. as a Remedy for Kidney Protection from a Pharmacological Perspective Yazar: De Jin, Yuqin Zhang, Yuehong Zhang, Liyun Duan, Rongrong Zhou, Yingyin Duan, Yuting Sun, Fengmei Lian, Xiaolin Tong

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Genomic, Transcriptomic and Metabolomic Studies of Two Well-Characterized, Laboratory-Derived Vancomycin-Intermediate Staphylococcus aureus Strains Derived from the Same Parent S... Yazar: Dipti S. Hattangady, Atul K. Singh, Arun Muthaiyan, Radheshyam K. Jayaswal, John E. Gustafson, Alexander V. Ulanov, Zhong Li, Brian J. Wilkinson, Richard F. Pfeltz

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Using PBPK modeling to supplement clinical data and support the safe and effective use of dolutegravir in pregnant and lactating women Yazar: Jia Ning, Amita Pansari, Karen Rowland Yeo, Aki T. Heikkinen, Catriona Waitt, Lisa M. Almond

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Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study Yazar: Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen

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Biomimetic carbon monoxide delivery based on hemoglobin vesicles ameliorates acute pancreatitis in mice via the regulation of macrophage and neutrophil activity Yazar: Kazuaki Taguchi, Saori Nagao, Hitoshi Maeda, Hiroki Yanagisawa, Hiromi Sakai, Keishi Yamasaki, Tomohiko Wakayama, Hiroshi Watanabe, Masaki Otagiri, Toru Maruyama

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Relationship Between Dental Caries and Erosive Tooth Wear in Adolescents Yazar: Megan L. Weber, Jenny Bogstad Søvik, Aida Mulic, Kathleen Deeley, Adriana Modesto, Anne B. Tveit, Alexandre R. Vieira

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Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA Yazar: Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin

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Integrated Fecal Microbiome and Serum Metabolomics Analysis Reveals Abnormal Changes in Rats with Immunoglobulin A Nephropathy and the Intervention Effect of Zhen Wu Tang Yazar: Jicheng Li, Yiwen Cao, Ruirui Lu, Honglian Li, Yu Pang, Hongxin Fu, Guoxing Fang, Qiuhe Chen, Bihao Liu, Bihao Liu, Junbiao Wu, Yuan Zhou, Jiuyao Zhou

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Role of Cholinergic Anti-Inflammatory Pathway in Protecting Sepsis-Induced Acute Lung Injury through Regulation of the Conventional Dendritic Cells Yazar: Ruiting Li, Xuemei Hu, Huibin Chen, Yue Zhao, Xuehui Gao, Yin Yuan, Huiling Guo, Haiyan Huang, Xiaojing Zou, Hong Qi, Hong Liu, You Shang

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The use of chicken and insect infection models to assess the virulence of African Salmonella Typhimurium ST313. Yazar: Lizeth Lacharme-Lora, Siân V Owen, Richard Blundell, Rocío Canals, Nicolas Wenner, Blanca Perez-Sepulveda, Wai Yee Fong, Rachel Gilroy, Paul Wigley, Jay C D Hinton

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Splice‐switch oligonucleotide‐based combinatorial platform prioritizes synthetic lethal targets CHK1 and BRD4 against MYC‐driven hepatocellular carcinoma Yazar: Dexter Kai Hao Thng, Tan Boon Toh, Paolo Pigini, Lissa Hooi, Yock Young Dan, Pierce Kah‐Hoe Chow, Glenn Kunnath Bonney, Masturah Bte Mohd Abdul Rashid, Ernesto Guccione, Dave Keng Boon Wee, Edward Kai‐Hua Chow

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Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2 Yazar: Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Maria Lucia Rosa Rossetti, Amit V. Pandey, Amit V. Pandey

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Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature Yazar: Xiaodi Han, Jie Deng, Chunhong Chen, Xiaohui Wang, Fang Fang, Hua Li, Jie Luo, Jie Wu

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