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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

The role of TBX18 in congenital heart defects in humans not confirmed

TBX18 在人类先天性心脏缺陷中的作用尚未得到证实

Engwerda, Aafke; Abbott, Kristin M; Hitzert, Marrit M; van Ravenswaaij-Arts, Conny M A; Kerstjens-Frederikse, Wilhelmina S

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

PIK3C2A基因突变会导致综合征性矮小症、骨骼异常以及与睫状功能障碍相关的白内障。

Tiosano, Dov; Baris, Hagit N; Chen, Anlu; Hitzert, Marrit M; Schueler, Markus; Gulluni, Federico; Wiesener, Antje; Bergua, Antonio; Mory, Adi; Copeland, Brett; Gleeson, Joseph G; Rump, Patrick; van Meer, Hester; Sival, Deborah A; Haucke, Volker; Kriwinsky, Josh; Knaup, Karl X; Reis, André; Hauer, Nadine N; Hirsch, Emilio; Roepman, Ronald; Pfundt, Rolph; Thiel, Christian T; Wiesener, Michael S; Aslanyan, Mariam G; Buchner, David A

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

B型下颌肢端发育不良(MADB):来自苏里南的8例患者队列,这些患者携带ZMPSTE24(FACE1)基因的纯合创始突变,临床诊断标准和治疗指南

Hitzert, M M; van der Crabben, S N; Baldewsingh, G; van Amstel, H K Ploos; van den Wijngaard, A; van Ravenswaaij-Arts, C M A; Zijlmans, C W R

Defining and describing birth centres in the Netherlands - a component study of the Dutch Birth Centre Study

荷兰生育中心定义与描述——荷兰生育中心研究的一个组成部分

Hermus, M A A; Boesveld, I C; Hitzert, M; Franx, A; de Graaf, J P; Steegers, E A P; Wiegers, T A; van der Pal-de Bruin, K M

Developing quality indicators for assessing quality of birth centre care: a mixed- methods study

制定用于评估生育中心护理质量的质量指标:一项混合方法研究

Boesveld, Inge C; Hermus, Marieke A A; de Graaf, Hanneke J; Hitzert, Marit; van der Pal-de Bruin, Karin M; de Vries, Raymond G; Franx, Arie; Wiegers, Therese A

An Approach to measuring Integrated Care within a Maternity Care System: Experiences from the Maternity Care Network Study and the Dutch Birth Centre Study

衡量孕产妇保健系统中的整合式照护的方法:来自孕产妇保健网络研究和荷兰生育中心研究的经验

Boesveld, Inge C; Valentijn, Pim P; Hitzert, Marit; Hermus, Marieke A A; Franx, Arie; de Vries, Raymond G; Wiegers, Therese A; Bruijnzeels, Marc A

The Dutch Birth Centre Study: study design of a programmatic evaluation of the effect of birth centre care in the Netherlands

荷兰生育中心研究:一项旨在评估荷兰生育中心护理效果的项目性研究设计

Hermus, Marieke A A; Wiegers, Therese A; Hitzert, Marit F; Boesveld, Inge C; van den Akker-van Marle, M Elske; Akkermans, Henk A; Bruijnzeels, Marc A; Franx, Arie; de Graaf, Johanna P; Rijnders, Marlies E B; Steegers, Eric A P; van der Pal-de Bruin, Karin M

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

患有 1 型酪氨酸血症的婴儿:是否需要补充苯丙氨酸?

van Vliet, Danique; van Dam, Esther; van Rijn, Margreet; Derks, Terry G J; Venema-Liefaard, Gineke; Hitzert, Marrit M; Lunsing, Roelineke J; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J

Early visual attention in preterm and fullterm infants in relation to cognitive and motor outcomes at school age: an exploratory study

早产儿和足月儿早期视觉注意力与学龄期认知和运动能力发展结果的关系:一项探索性研究

Hitzert, Marrit M; Van Braeckel, Koenraad N J A; Bos, Arend F; Hunnius, Sabine; Geuze, Reint H