van Eeghen Agnies - Emma Children’s Hospital, University of Amsterdam

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论文共 81 篇作者统计合作学者相似作者

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Symptomatic Creatine Phosphokinase Elevation in a Crohn's Disease Patient Caused by Upadacitinib

Anna Schuitema,Suzanne I. Anjie,Agnies M. van Eeghen,Sander W. Tas,Mark Lowenberg

Clinical case reportsno. 1 (2024): e8227-e8227

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A. Banda,J. Naaldenberg,A. Timen,A. van Eeghen,G. Leusink,M. Cuypers

JOURNAL OF INTELLECTUAL DISABILITY RESEARCHno. 7 (2024): 785-785

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Navigating the Outcome Maze: a Scoping Review of Outcomes and Instruments in Clinical Trials in Genetic Neurodevelopmental Disorders and Intellectual Disability

Annelieke R Müller, Nadia Y van Silfhout,Bibiche den Hollander, Dick H C Kampman,Lianne Bakkum, M,Lotte Haverman,Caroline B Terwee,Carlo Schuengel,Joost Daams,David Hessl,Frits A Wijburg,Erik Boot,Agnies M van Eeghen

Therapeutic advances in rare disease (2024)

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Cannabidiol (epidyolex®) for Severe Behavioral Manifestations in Patients with Tuberous Sclerosis Complex, Mucopolysaccharidosis Type III and Fragile X Syndrome: Protocol for a Series of Randomized, Placebo-Controlled N - of - 1 Trials

A. R. Müller, B. den Hollander,P. M. van de Ven,K. C. B. Roes, L. Geertjens,H. Bruining,C. D. M. van Karnebeek, F. E. Jansen,M. C. Y. de Wit,L. W. ten Hoopen,A. B. Rietman,B. Dierckx, F. A. Wijburg,E. Boot, M. M. G. Brands,A. M. van Eeghen

BMC PSYCHIATRYno. 1 (2024)

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Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review

Hadassa Kwetsie,Malu van Schaijk,Sven Van Der Lee,Dederieke Maes-Festen,Leontine W Ten Hoopen,Mieke M van Haelst, Michael Coesmans,Esther Van Den Berg,Marie Claire Y De Wit,Yolande Pijnenburg,Eleonora Aronica,Erik Boot,Agnies M Van Eeghen

Neurologyno. 11 (2024): e209413-e209413

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Hearing Loss and History of Otolaryngological Conditions in Adults with Microdeletion 22Q11.2

Emma N. M. M. von Scheibler,Josine C. C. Widdershoven, Denise C. P. B. M. van Barneveld,Nina Schroder,Agnies M. van Eeghen,Therese A. M. J. van Amelsvoort,Erik Boot

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2024)

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PROs for RARE: Protocol for Development of a Core Patient Reported Outcome Set for Individuals with Genetic Intellectual Disability

Nadia Y. van Silfhout,Maud M. van Muilekom,Clara D. van Karnebeek,Lotte Haverman,Agnies M. van Eeghen

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

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Corrigendum to "effectiveness of L-serine Supplementation in Children with a GRIN2B Loss-of-function Mutation: Rationale and Protocol for Single Patient (N-of-1) Multiple Cross-over Trials" [contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/J.conctc.2023.101233]

Bibiche den Hollander, Marieke Rothuizen-Lindenschot,Lisa Geertjens,Frédéric M Vaz,Marion M Brands,Hoang Lan Le,Agnies M van Eeghen,Peter M van de Ven,Martina C Cornel,Bart A W Jacobs,Hilgo Bruining,Clara D van Karnebeek

Contemporary clinical trials communications (2024): 101264-101264

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Evaluation of 100 Dutch Cases with 16p11.2 Deletion and Duplication Syndromes; from Clinical Manifestations Towards Personalized Treatment Options

Niels Vos,Lotte Kleinendorst,Liselot van der Laan, Jorrit van Uhm,Philip R. Jansen,Agnies M. van Eeghen,Saskia M. Maas,Marcel M. A. M. Mannens,Mieke M. van Haelst

European journal of human genetics EJHGno. 11 (2024): 1387-1401

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Parkinsonism in People with Intellectual Disability

Erik Boot,Agnies M. van Eeghen,Bas R. Bloem,Bart P. van de Warrenburg,Maarten Cuypers

Parkinsonism & related disorders (2024): 107079-107079

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