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A

Annelieke R. Müller

Emma Center for Personalized Medicine
H指数:8
被引数:178

个人简介

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教育背景

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工作经历

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荣誉奖项

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Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials

L-丝氨酸在具有GRIN2B功能丧失性变异的儿童中的潜在益处：随机n-of-1试验

Molecular Genetics and Metabolism
IF3.5
2025-10-300
PRE
Bibiche den Hollander; Marieke Rothuizen-Lindenschot; Hoang Lan Le; Jennifer R. Ramautar; Annelieke R. Müller; Lisa Geertjens; Frédéric M. Vaz; Agnies M. van Eeghen; Martina C. Cornel; Bart A.W. Jacobs; Hilgo Bruining; Peter M. van de Ven; Marion M. Brands; Clara D. van Karnebeek
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology

SIMPATHIC: 通过利用临床和分子病理学的相似性来加速罕见疾病的药物再利用

MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-03-010
PRE
van Karnebeek, Clara D. M.; Muller, Annelieke R.; Benkemoun, Laura; Boussaad, Ibrahim; Cornel, Martina C.; Inthout, Joanna; de Kort, Martin; Martins, Sofia de Oliveira; Prigione, Alessandro; Rigter, Tessel; Roes, Kit C. B.; Sanchez, Anna; Schipper, Raymond; Wilkinson, Mark D.; 't Hoen, Peter A. C.
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

我们在乎吗？多学科智力残疾护理中遗传诊断的报告: 回顾性图表回顾

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-09-160
OAAI
Muller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Marielle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.

研究方向

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A
Agnies M. van Eeghen
H 指数:24论文数:104被引数:2,328
M
Martina C. Cornel
H 指数:55论文数:490被引数:1.1万
F
Frits A. Wijburg
H 指数:73论文数:413被引数:1.8万
K
Kit C. B. Roes
H 指数:35论文数:202被引数:4,524
E
Erik Boot
H 指数:32论文数:132被引数:3,853
M
Marion M. Brands
H 指数:15论文数:54被引数:815
H
Hilgo Bruining
H 指数:26论文数:104被引数:2,947
M
Mieke M. van Haelst
H 指数:48论文数:210被引数:8,538
P
Peter M. van de Ven
H 指数:42论文数:223被引数:7,399
P
Peter A.C. ’t Hoen
H 指数:73论文数:505被引数:4.7万