Search Results - "next generation sequencing"

Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples by James P. Solomon, Carlos Munoz-Zuluaga, Cheyanne Slocum, Alicia Dillard, Lin Cong, Jiajing Wang, Neal Lindeman, Michael Kluk, Benjamin Liechty, David Pisapia, Hanna Rennert, Priya D. Velu

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Antibiotic Persistence as a Metabolic Adaptation: Stress, Metabolism, the Host, and New Directions by Damien J. Cabral, Jenna I. Wurster, Peter Belenky

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Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town by Gregorio Serra, Vincenzo Antona, Maria Michela D'Alessandro, Maria Cristina Maggio, Vincenzo Verde, Giovanni Corsello

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Investigation of neglected protists Blastocystis sp. and Dientamoeba fragilis in immunocompetent and immunodeficient diarrheal patients using both conventional and molecular method... by Fakhriddin Sarzhanov, Funda Dogruman-Al, Monica Santin, Jenny G Maloney, Ayse Semra Gureser, Djursun Karasartova, Aysegul Taylan-Ozkan

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Parental Preferences for Expanded Newborn Screening: What Are the Limits? by Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, Robin Z. Hayeems

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Pre-implantation Genetic Testing for Aneuploidy (PGT-A) by Wirawit Piyamongkol

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Case Report: Severe Listeria Encephalitis With Complicated or Secondary Autoimmune Encephalitis and CNS Demyelinating Diseases by Xiaomin Zhang, Peng Feng, Pengfei Meng, Dongfang Li, Huizhong Gao, Yang Zhao, Jingjing Yuan, Yongqing Wang, Han Xia

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Molecular typing of Mycobacterium tuberculosis strains: a fundamental tool for tuberculosis control and elimination by Angela Cannas, Antonio Mazzarelli, Antonino Di Caro, Giovanni Delogu, Enrico Girardi

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HUMAN GENETIC VARIANTS AND THEIR ANALYSIS: CURRENT STATE AND FUTURE PERSPECTIVES by Lara Slavec, Ksenija Geršak, Nataša Karas Kuželički, Katarina Trebušak Podkrajšek

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Primary SMARCA4-deficient undifferentiated sarcomatoid tumor of the gastroesophageal junction by Jiahan Liu, Lingying Song, Jian Wang

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Molecular and cellular markers for measurable residual disease in acute lymphoblastic leukemia by Gerardo Juárez-Avendaño, Nereida Méndez-Ramírez, Nuria C. Luna-Silva, David Gómez-Almaguer, Rosana Pelayo, Juan C. Balandrán

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Streptococcus suis meningitis in China: a case report by Tiantian Liu, Hengfang Liu, Yanjie Jia

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Very severe aplastic anemia in a child with pulmonary mucormycosis: a case report by Minchun Huang, Nanchuan Jiang, Yahui Ren, Yun Peng, Xiaoyan Wu

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How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation by Hoon Kook, Boram Kim, Hee Jo Baek

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GENE-IS: Time-Efficient and Accurate Analysis of Viral Integration Events in Large-Scale Gene Therapy Data by Saira Afzal, Stefan Wilkening, Christof von Kalle, Manfred Schmidt, Raffaele Fronza

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A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex by Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing Li

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Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation by Jing Zhang, Xiu Han, Qun Lu, Yunfei Feng, Aiqun Ma, Tingzhong Wang

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The Spectrum of NF1 Gene Variations in Southeastern Turkey by Emre Kırat, Hatice Mutlu Albayrak

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Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes by Su-Kyeong Hwang, Soonhak Kwon

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Primary resistance to first- and second-generation ALK inhibitors in a non-small cell lung cancer patient with coexisting ALK rearrangement and an ALK F1174L-cis-S1189C de novo mut... by Jiuzhou Zhao, Jiuzhou Zhao, Xiang Li, Ruizhe Fan, Yaping Qin, Zhizhong Wang, Zhizhong Wang, Bo Wang, Bo Wang, Shaomei Li, Jianfeng Fan, Xinxin Wu, Xinxin Wu, Hongxia Liu, Hongxia Liu, Yuping Guan, Yinfeng Liang, Xiao Zhang, Yongjun Guo, Yongjun Guo

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