Carreira Isabel M相关文献与解析，生知库

Liehr, Thomas; Ziegler, Monika; Person, Luisa; Kankel, Stefanie; Padutsch, Niklas; Weise, Anja; Weimer, Jörg Paul; Williams, Heather; Ferreira, Susana; Melo, Joana B; Carreira, Isabel M

发表日期：2023

文献求助收藏

Recommendations for reporting results of diagnostic genomic testing

关于诊断性基因组检测结果报告的建议

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-022-01091-0

Deans, Zandra C; Ahn, Joo Wook; Carreira, Isabel M; Dequeker, Elisabeth; Henderson, Mick; Lovrecic, Luca; Õunap, Katrin; Tabiner, Melody; Treacy, Rebecca; van Asperen, Christi J

发表日期：2022

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Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B-cell acute lymphoblastic leukemia: A case report

儿童B细胞急性淋巴细胞白血病伴有隐匿性FUS基因重排和NR3C1及VPREB1基因缺失的复杂核型：病例报告

期刊:Oncology Letters

影响因子:2.2

doi:10.3892/ol.2020.11387

Othman, Moneeb A K; Đurišić, Marina; Samardzija, Gordana; Vujić, Dragana; Lakic, Nina; Zecevic, Zeljko; Al-Shaheri, Fawaz; Aroutiounian, Rouben; Melo, Joana B; Carreira, Isabel M; Meyer, Britta; Liehr, Thomas

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome

一例具有极其复杂核型和急性自发性肿瘤溶解综合征的儿童急性淋巴细胞白血病新病例

期刊:Molecular Cytogenetics

影响因子:1.4

doi:10.1186/s13039-020-00512-3

Wafa, Abdulsamad; Jarjour, Rami A; Alolabi, Doaa; Liehr, Thomas; Hamdan, Othman; Melo, Joana B; Carreira, Isabel M; Othman, Moneeb A K; Al-Achkar, Walid

An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

叙利亚儿童B细胞急性淋巴细胞白血病病例中发现获得性稳定变异的双着丝粒dic(9;20)和复杂核型

期刊:Molecular Cytogenetics

影响因子:1.4

doi:10.1186/s13039-020-00499-x

Wafa, Abdulsamad; Jarjour, Rami A; Aljapawe, Abdulmunim; ALmedania, Suher; Liehr, Thomas; Melo, Joana B; Carreira, Isabel M; Othman, Moneeb A K; Al-Achkar, Walid

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

关于临床实验室遗传学家在遗传医疗保健系统中的权利和义务；一项涵盖50多个国家的调查结果

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-019-0379-4

Liehr, Thomas; Carreira, Isabel M; Balogh, Zsofia; Garrido, Elena Dominguez; Verdorfer, Irmgard; Coviello, Domenico A; Florentin, Lina; Scheffer, Hans; Rincic, Martina; Williams, Heather E

发表日期：2019

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Urine Nuclear Magnetic Resonance (NMR) Metabolomics in Age-Related Macular Degeneration

尿液核磁共振（NMR）代谢组学在年龄相关性黄斑变性中的应用

期刊:Journal of Proteome Research

影响因子:3.6

doi:10.1021/acs.jproteome.8b00877

Laíns, Inês; Duarte, Daniela; Barros, António S; Martins, Ana Sofia; Carneiro, Tatiana J; Gil, João Q; Miller, John B; Marques, Marco; Mesquita, Tânia S; Barreto, Patrícia; Kim, Ivana K; da Luz Cachulo, Maria; Vavvas, Demetrios G; Carreira, Isabel M; Murta, Joaquim Neto; Silva, Rufino; Miller, Joan W; Husain, Deeba; Gil, Ana M

代谢

发表日期：2019

文献求助收藏

European registration process for Clinical Laboratory Geneticists in genetic healthcare

欧洲临床实验室遗传学家在遗传医疗保健领域的注册流程

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/ejhg.2017.25

Liehr, Thomas; Carreira, Isabel M; Aktas, Dilek; Bakker, Egbert; Rodríguez de Alba, Marta; Coviello, Domenico A; Florentin, Lina; Scheffer, Hans; Rincic, Martina

发表日期：2017

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Effects of resistance exercise on endothelial progenitor cell mobilization in women

阻力运动对女性内皮祖细胞动员的影响

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-017-18156-6

Ribeiro, Fernando; Ribeiro, Ilda P; Gonçalves, Ana C; Alves, Alberto J; Melo, Elsa; Fernandes, Raquel; Costa, Rui; Sarmento-Ribeiro, Ana B; Duarte, José A; Carreira, Isabel M; Witkowski, Sarah; Oliveira, José

细胞生物学

发表日期：2017

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Human plasma metabolomics in age-related macular degeneration (AMD) using nuclear magnetic resonance spectroscopy

利用核磁共振波谱法研究年龄相关性黄斑变性（AMD）患者的血浆代谢组学

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0177749

Laíns, Inês; Duarte, Daniela; Barros, António S; Martins, Ana Sofia; Gil, João; Miller, John B; Marques, Marco; Mesquita, Tânia; Kim, Ivana K; Cachulo, Maria da Luz; Vavvas, Demetrios; Carreira, Isabel M; Murta, Joaquim N; Silva, Rufino; Miller, Joan W; Husain, Deeba; Gil, Ana M

Small supernumerary marker chromosomes derived from human chromosome 11

源自人类11号染色体的小型超数标记染色体

Recommendations for reporting results of diagnostic genomic testing

关于诊断性基因组检测结果报告的建议

Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B-cell acute lymphoblastic leukemia: A case report

儿童B细胞急性淋巴细胞白血病伴有隐匿性FUS基因重排和NR3C1及VPREB1基因缺失的复杂核型：病例报告

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome

一例具有极其复杂核型和急性自发性肿瘤溶解综合征的儿童急性淋巴细胞白血病新病例

An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

叙利亚儿童B细胞急性淋巴细胞白血病病例中发现获得性稳定变异的双着丝粒dic(9;20)和复杂核型

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

关于临床实验室遗传学家在遗传医疗保健系统中的权利和义务；一项涵盖50多个国家的调查结果

Urine Nuclear Magnetic Resonance (NMR) Metabolomics in Age-Related Macular Degeneration

尿液核磁共振（NMR）代谢组学在年龄相关性黄斑变性中的应用

European registration process for Clinical Laboratory Geneticists in genetic healthcare

欧洲临床实验室遗传学家在遗传医疗保健领域的注册流程

Effects of resistance exercise on endothelial progenitor cell mobilization in women

阻力运动对女性内皮祖细胞动员的影响

Human plasma metabolomics in age-related macular degeneration (AMD) using nuclear magnetic resonance spectroscopy

利用核磁共振波谱法研究年龄相关性黄斑变性（AMD）患者的血浆代谢组学