Search Results - "genetic testing"

Efficacy of Phenotype-vs. Genotype-Guided Therapy Based on Clarithromycin Resistance for Helicobacter pylori Infection in Children by Yan Feng, Wenhui Hu, Yuhuan Wang, Junping Lu, Ye Zhang, Zifei Tang, Shijian Miao, Ying Zhou, Ying Huang

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Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis by Viola D'Ambrosio, Alessia Azzarà, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro

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Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience by Maki Ishizuka, Wenxin Zou, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Yuxin Fan, Nidhy P. Varghese

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Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous popula... by Sara Aslam, Shabana, Mehboob Ahmed

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Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review by Jiajia Tian, Fei Xiang, Liandi Wang, Xueyi Wu, Lijuan Shao, Li Ma, Chuwen Fang

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Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases by Jiahui Zhang, Changming Zhang, Erzhi Gao, Qing Zhou

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Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital by Fahad A. Bashiri, Rawan AlSheikh, Muddathir H. Hamad, Hamad Alsheikh, Rana Abdullah Alsheikh, Amal Kentab, Najd AlTheeb, Malak Alghamdi

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Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family by Peng Fan, Chao-Xia Lu, Kun-Qi Yang, Pei-Pei Lu, Su-Fang Hao, Fang Luo, Hui-Min Zhang, Lei Song, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou

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Room for improvement in capturing cancer family history in a gynecologic oncology outpatient setting by Jenny Lin, Isabel Wolfe, Muhammad Danyal Ahsan, Hannah Krinsky, Andreas I. Lackner, Joe Pelt, Karen Bolouvi, Charlotte Gamble, Charlene Thomas, Paul J. Christos, Evelyn Cantillo, Kevin Holcomb, Eloise Chapman-Davis, Ravi Sharaf, Steven M. Lipkin, Stephanie V. Blank, Melissa K. Frey

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Clinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates by Jiali Wang, Li Zhao

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Multimorbidity in Pediatric Dermatology: Clinical Case by Nikolay N. Murashkin, Alexander I. Materikin, Eduard T. Ambarchian, Roman V. Epishev, Leonid A. Opryatin, Roman A. Ivanov, Daria S. Kukoleva, Daria G. Kuptsova, Alexander A. Pushkov, Marina Yu. Pomazanova, Yana V. Kozyr

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Optimising clinical effectiveness and quality along the atrial fibrillation anticoagulation pathway: an economic analysis by Eoin Moloney, Dawn Craig, Nikki Holdsworth, Joanne Smithson

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Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome by Jianguo Yan, Yuanzhi Huang, Lili Cao, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Yinjie Gao, Danni Feng, Min Zhang

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Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis by Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui Chen

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The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient... by Hannah G. Hoban, Tiffany A. Yip, Joanna C. Chau, Jeannette T. Bensen, Lauren R. Desrosiers, Candice R. Finnila, Lucia A. Hindorff, Nicole R. Kelly, Frances L. Lynch, Bradley A. Rolf, Hadley S. Smith, Melissa P. Wasserstein, Kristen Hassmiller Lich

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Are there cultural differences in parental interest in early diagnosis and genetic risk assessment for Autism Spectrum Disorder? by Claire eAmiet, Claire eAmiet, Elizabeth eCouchon, Kelly eCarr, Jerome eCarayol, David eCohen

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A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report by Jingying Cheng, Jiafeng Yao, Shasha Zhao, Lingling Fu, Liqiang Zhang, Jin Jiang

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Towards talent inclusion: The ecological ground of performance and potentiality - comment on McAuley et al. by Duarte Araújo, Keith Davids

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Cell-Free Fetal DNA in Plasma of Pregnant Women: Clinical Potential and Origin by Akihiko Sekizawa, Antonio Farina, Takashi Okai

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Genetic screening: The vista of genomic medicine by Rajiv Saini, Santosh Saini, Gagan Saini

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