Suchergebnisse - "next generation sequencing"

Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review von Daria Morgacheva, Alexandra Daks, Alexandra Daks, Anna Smirnova, Aleksandr Kim, Daria Ryzhkova, Lubov Mitrofanova, Alena Staliarova, Evgeniya Omelina, Alexey Pindyurin, Olga Fedorova, Olga Fedorova, Oleg Shuvalov, Oleg Shuvalov, Alexey Petukhov, Alexey Petukhov, Yulia Dinikina

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Extremely rare case of intravascular solitary fibrous tumour in the inferior vena cava with review of the literature von Jingyuan Fan, Jinfeng Qiu, Qingjun Wei

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Pathogenesis diagnosis of a pediatric patient suffering from multi-organ abscesses von Mingkun Wu, Haijuan Xiao, Yan Xiao, Tianming Chen, Xinming Wang, Xia Xiao, Ying Wang, Jianwei Wang, Lili Ren, Gang Liu

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Molecular Testing and Treatment Strategies in <i>RET</i>-Rearranged NSCLC Patients: Stay on Target to Look Forward von Maria Lucia Reale, Valentina Bertaglia, Angela Listì, Silvia Novello, Francesco Passiglia

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Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! von Hikmat Abdel-Razeq

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Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives von Yoon Kyung Jeon, Sun Och Yoon, Jin Ho Paik, Young A Kim, Bong Kyung Shin, Hyun-Jung Kim, Hee Jeong Cha, Ji Eun Kim, Jooryung Huh, Young-Hyeh Ko

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Establishing Genotype-to-Phenotype Relationships in Bacteria Causing Hospital-Acquired Pneumonia: A Prelude to the Application of Clinical Metagenomics von Etienne Ruppé, Abdessalam Cherkaoui, Vladimir Lazarevic, Stéphane Emonet, Jacques Schrenzel

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Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review von Xuan Zheng, Shaolei Guo, Dawei Liu, Jianping Chu, Yongfu Li, Xiaoxuan Wang, Xing Zhang, Chao Song, Quan Huang

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Case Report and Literature Review: Bacterial Meningoencephalitis or Not? Naegleria fowleri Related Primary Amoebic Meningoencephalitis in China von Wenjuan Zhou, Yuzhen Ouyang, Yuzhen Ouyang, Di Zhang, Sheng Liao, Sheng Liao, Hui Liang, Hui Liang, Lingling Zhao, Chunyuan Chen

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Research progress on the integrated detection technology for forensic deoxyribonucleic acid genetic markers and ribonucleic acid molecular markers von Lei Miao, Jia-Hui Yuan, Ke-Lai Kang, Jie Zhao, Chi Zhang, Le Wang

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Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report von Li'na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei

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Colorectal cancer with a germline variant inherited paternally: a case report von Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung

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Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future von Jovanka King, Jonas F. Ludvigsson, Lennart Hammarström

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Equity in blood transfusion precision services von Georgina Jacko, Rachel Thorpe, James Daly

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Comparative genomic analysis of esophageal squamous cell carcinoma and adenocarcinoma: New opportunities towards molecularly targeted therapy von Xu Zhang, Yuxiang Wang, Linghua Meng

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Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations von Jovanka R. King, Kalle Grill, Lennart Hammarström

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Pelvic infection caused by periodontitis: A case report von Cuihong Tian, Hongle Yan, Ping Tang, Jinqiu Shi, Maolian Liang, Yanyan Wan, Weiping Li, Xizhuo Sun, Chenglu Qin

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Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand von Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk

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Aggressive prostate cancer with somatic loss of the homologous recombination repair gene FANCA: a case report von Hiroshi Hongo, Takeo Kosaka, Eriko Aimono, Hiroshi Nishihara, Mototsugu Oya

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Genetics of Vascular Malformations: Current Perspectives von Kin Fon Leong

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