日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study

改善非洲罕见病诊断的可及性:一项多国试点研究的启示

Swanepoel, Albe Carina; Hendriksz, Christian Johannes; Mukhwana, Renson; Oduwole, Abiola; Abdalla, Asmahan T; Ameyaw, Emmanuel; Muze, Kandi-Catherine; Auruku, Andrew; Pinto, Felix; Joel, Dipesalema; Aleksovska, Vesna; Collin-Histed, Tanya; Odero, Roselyn; Conradie, Engela Helena

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study

通过外显子组测序进行拷贝数变异分析是优化发育障碍诊断率的有效方法——DDD-Africa 研究

Louw, Nadja; Makay, Prince; Mpangase, Phelelani T; Naicker, Thirona; Yates, Laura M; Honey, Engela; Mbungu, Gerrye; Van Den Bogaert, Kris; Firth, Helen V; Hurles, Matthew E; Tshilobo, Prosper Lukusa; Devriendt, Koen; Krause, Amanda; Carstens, Nadia; Lumaka, Aimé; Lombard, Zané

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。

Laver, Thomas W; Wakeling, Matthew N; Caswell, Richard C; Bunce, Benjamin; Yau, Daphne; Männistö, Jonna M E; Houghton, Jayne A L; Hopkins, Jasmin J; Weedon, Michael N; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Tangari Saredo, Ana; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D L; Flanagan, Sarah E

Genetic and Environmental Factors in Autoimmune Thyroid Disease: Exploring Associations with Selenium Levels and Novel Loci in a Latvian Cohort

自身免疫性甲状腺疾病的遗传和环境因素:探索拉脱维亚人群中硒水平和新基因位点的关联

Upmale-Engela, Sabine; Vaivode, Ieva; Peculis, Raitis; Litvina, Helena; Zake, Tatjana; Skesters, Andrejs; Gogins, Deniss; Rovite, Vita; Konrade, Ilze

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

南非1型神经纤维瘤病(NF1)表型患者的突变分析和临床特征

Mudau, Maria Mabyalwa; Dillon, Bronwyn; Smal, Clarice; Feben, Candice; Honey, Engela; Carstens, Nadia; Krause, Amanda

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype

南非科妮莉亚·德·兰格综合征表型患者的突变谱分析

Seymour, Heather; Feben, Candice; Nevondwe, Patracia; Kerr, Robyn; Spencer, Careni; Mudau, Maria; Honey, Engela; Lombard, Zane; Krause, Amanda; Carstens, Nadia

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments

资源受限环境下针对罕见遗传疾病的可行分子诊断策略

Maria Mabyalwa Mudau, Heather Seymour, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Candice Feben, Zané Lombard, Engela Honey, Amanda Krause, Nadia Carstens

Quantitative Galactose Colorimetric Competitive Assay Based on Galactose Dehydrogenase and Plasmonic Gold Nanostars

基于半乳糖脱氢酶和等离子体金纳米星的定量半乳糖比色竞争分析法

Munyayi, Tozivepi Aaron; Mulder, Danielle Wingrove; Conradie, Engela Helena; Johannes Smit, Frans; Vorster, Barend Christiaan

Stress-Related Immune Response and Selenium Status in Autoimmune Thyroid Disease Patients

自身免疫性甲状腺疾病患者的应激相关免疫反应和硒状态

Vaivode, Ieva; Zake, Tatjana; Strele, Ieva; Upmale-Engela, Sabine; Gogins, Deniss; Gersone, Gita; Skesters, Andrejs; Dambrova, Maija; Konrade, Ilze

Feasibility of NAD(P)/NAD(P)H as redox agents in enzymatic plasmonic gold nanostar assays for galactose quantification

NAD(P)/NAD(P)H 作为氧化还原剂在酶促等离子体金纳米星半乳糖定量分析中的可行性

Munyayi, Tozivepi Aaron; Mulder, Danielle Wingrove; Conradie, Engela Helena; Vorster, Barend Christiaan