Search the collection

20 results for van+Eeghen,+Agnies+M

Sort by:

Sort by

Limit results to:

20 per page

20 results for van+Eeghen,+Agnies+M

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
Author / Creator:Müller, Annelieke R. ; Luijten, Michiel A. J. ; Haverman, Lotte ; de Ranitz-Greven, Wendela L. ; Janssens, Peter ; Rietman, André B. ; ten Hoopen, Leontine W. ; de Graaff, Laura C. G. ; de Wit, Marie-Claire ; Jansen, Anna C. ; Gipson, Tanjala ; Capal, Jamie K. ; de Vries, Petrus J. ; van Eeghen, Agnies M.
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2023-08, Vol.21 (1), p.298-298, Article 298
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Author / Creator:van Eeghen, Agnies M ; Thiele, Elizabeth A ; Amin, Sam ; Samanta, Debopam ; Jansen, Anna C ; Stevens, Joanne ; Moore-Ramdin, Lisa ; de Vries, Petrus J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2025-06, Vol.20 (6), p.e0324648
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability
Author / Creator:van Silfhout, Nadia Y. ; van Muilekom, Maud M. ; van Karnebeek, Clara D. ; Haverman, Lotte ; van Eeghen, Agnies M.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.354-9, Article 354
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Author / Creator:Müller, Annelieke R. ; Boot, Erik ; Notermans, Stijn B. ; Schuengel, Carlo ; Henneman, Lidewij ; Cornel, Martina C. ; van Haelst, Mieke M. ; Alders, Mariëlle ; van Karnebeek, Clara D. M. ; Bijl, Bas ; Wijburg, Frits A. ; van Eeghen, Agnies M.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.346-11, Article 346
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)
Author / Creator:Chambers, Nola ; Heunis, Tosca-Marie ; Gardner-Lubbe, Sugnet ; Capal, Jamie K ; Bissell, Stacey ; Byars, Anna W ; Cukier, Sebastián ; Davis, Peter E ; Flinn, Jennifer ; Gipson, Tanjala T ; Kingswood, J Chris ; Kumm, Aubrey J ; Schoeters, Eva ; Smith, Catherine ; Srivastava, Shoba ; Takei, Megumi ; Vanclooster, Stephanie ; van Eeghen, Agnies M ; Waltereit, Robert ; Krueger, Darcy A ; Sahin, Mustafa ; De Waele, Liesbeth ; Jansen, Anna C ; de Vries, Petrus J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-06, Vol.20 (1), p.304-17
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Author / Creator:de Vries, Petrus J. ; Heunis, Tosca-Marie ; Vanclooster, Stephanie ; Chambers, Nola ; Bissell, Stacey ; Byars, Anna W. ; Flinn, Jennifer ; Gipson, Tanjala T. ; van Eeghen, Agnies M. ; Waltereit, Robert ; Capal, Jamie K. ; Cukier, Sebastián ; Davis, Peter E. ; Smith, Catherine ; Kingswood, J. Chris ; Schoeters, Eva ; Srivastava, Shoba ; Takei, Megumi ; Gardner-Lubbe, Sugnet ; Kumm, Aubrey J. ; Krueger, Darcy A. ; Sahin, Mustafa ; De Waele, Liesbeth ; Jansen, Anna C.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2023-09, Vol.15 (1), p.32-20, Article 32
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
Author / Creator:Müller, Annelieke R. ; Luijten, Michiel A. J. ; Haverman, Lotte ; de Ranitz-Greven, Wendela L. ; Janssens, Peter ; Rietman, André B. ; Hoopen, Leontine W.ten ; de Graaff, Laura C. G. ; de Wit, Marie-Claire ; Jansen, Anna C. ; Gipson, Tanjala ; Capal, Jamie K. ; de Vries, Petrus J. ; van Eeghen, Agnies M.
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2023-10, Vol.21 (1), p.401-401, Article 401
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review
Author / Creator:Vanclooster, Stephanie ; Bissell, Stacey ; van Eeghen, Agnies M. ; Chambers, Nola ; De Waele, Liesbeth ; Byars, Anna W. ; Capal, Jamie K. ; Cukier, Sebastián ; Davis, Peter ; Flinn, Jennifer ; Gardner-Lubbe, Sugnet ; Gipson, Tanjala ; Heunis, Tosca-Marie ; Hook, Dena ; Kingswood, J. Christopher ; Krueger, Darcy A. ; Kumm, Aubrey J. ; Sahin, Mustafa ; Schoeters, Eva ; Smith, Catherine ; Srivastava, Shoba ; Takei, Megumi ; Waltereit, Robert ; Jansen, Anna C. ; de Vries, Petrus J.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.13-13, Article 13
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines
Author / Creator:van Eeghen, Agnies M. ; Terán, Laura Ortiz ; Johnson, Jason ; Pulsifer, Margaret B. ; Thiele, Elizabeth A. ; Caruso, Paul
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neuroradiology, 2013-08, Vol.55 (8), p.1007-1014
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development
Author / Creator:Pleuntje J van der Sluijs ; Koshar Safai Pour ; Berends, Cécile L ; Kruizinga, Matthijs D ; Müller, Annelieke R ; van Eeghen, Agnies M ; Rodríguez-Girondo, Mar ; Juachon, Maria J ; Steenbeek, Duco ; Cohen, Adam F ; Rob G J A Zuiker ; Santen, Gijs W E
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2025-03, p.jmg-2024-109951
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Genotype and cognitive phenotype of patients with tuberous sclerosis complex
Author / Creator:van Eeghen, Agnies M ; Black, Margaux E ; Pulsifer, Margaret B ; Kwiatkowski, David J ; Thiele, Elizabeth A
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.510-515
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives
Author / Creator:Overwater, IE ; Rietman, AB ; van Eeghen, AM ; de Wit, MCY
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2019-01, Vol.15, p.951-955
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant
Author / Creator:Linders, Cathelijne C. ; van Eeghen, Agnies M. ; Zinkstok, Janneke R. ; van den Boogaard, Marie-José ; Boot, Erik
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-07, Vol.14 (8), p.1514
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Genotype and brain pathology phenotype in children with tuberous sclerosis complex
Author / Creator:Overwater, Iris E ; Swenker, Rob ; van der Ende, Emma L ; Hanemaayer, Kimberley BM ; Hoogeveen-Westerveld, Marianne ; van Eeghen, Agnies M ; Lequin, Maarten H ; van den Ouweland, Ans MW ; Moll, Henriëtte A ; Nellist, Mark ; de Wit, Marie-Claire Y
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1688-1695
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Symptomatic creatine phosphokinase elevation in a Crohn's disease patient caused by upadacitinib
Author / Creator:Schuitema, Anna ; Anjie, Suzanne I. ; Eeghen, Agnies M. ; Tas, Sander W. ; Löwenberg, Mark
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2024-01, Vol.12 (1), p.e8227-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Post-traumatic stress in adults with 22q11.2 deletion syndrome
Author / Creator:von Scheibler, Emma N. M. M. ; van Amelsvoort, Thérèse A. M. J. ; Vingerhoets, Claudia ; van Eeghen, Agnies M. ; Boot, Erik
Publisher:Cambridge, UK: Cambridge University Press
Journal title:BJPsych open, 2022-07, Vol.8 (4), p.e126-e126, Article e126
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Erratum to: The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines
Author / Creator:van Eeghen, Agnies M. ; Ortiz-Terán, Laura ; Johnson, Jason ; Pulsifer, Margaret B. ; Thiele, Elizabeth A. ; Caruso, Paul
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neuroradiology, 2013-08, Vol.55 (8), p.1015-1015
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic IRAI1/I Variant
Author / Creator:Linders, Cathelijne C ; van Eeghen, Agnies M ; Zinkstok, Janneke R ; van den Boogaard, Marie-José ; Boot, Erik
Publisher:MDPI AG
Journal title:Genes, 2023-07, Vol.14 (8)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Protocol f...
Author / Creator:Agnies M. van Eeghen ; Elizabeth A. Thiele ; Sam Amin ; Debopam Samanta ; Anna C. Jansen ; Joanne Stevens ; Lisa Moore-Ramdin ; Petrus J. de Vries
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2025-01, Vol.20 (6)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ReviewsPeer ReviewedFull Text
Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions
Author / Creator:Peters, Jurriaan M ; Taquet, Maxime ; Prohl, Anna K ; Scherrer, Benoit ; van Eeghen, Agnies M ; Prabhu, Sanjay P ; Sahin, Mustafa ; Warfield, Simon K
Publisher:England: Future Medicine Ltd
Journal title:Future neurology, 2013, Vol.8 (5), p.583-597
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 20 results

Export record to excel

Export this record

Export record to excel

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Export this record

Export record to excel

Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Export this record

Export record to excel

PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability

Export this record

Export record to excel

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

Export this record

Export record to excel

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)

Export this record

Export record to excel

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Export this record

Export record to excel

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Export this record

Export record to excel

The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

Export this record

Export record to excel

The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

Export this record

Export record to excel

Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development

Export this record

Export record to excel

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

Export this record

Export record to excel

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

Export this record

Export record to excel

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Export this record

Export record to excel

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Export this record

Export record to excel

Symptomatic creatine phosphokinase elevation in a Crohn's disease patient caused by upadacitinib

Export this record

Export record to excel

Post-traumatic stress in adults with 22q11.2 deletion syndrome

Export this record

Export record to excel

Erratum to: The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

Export this record

Export record to excel

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic IRAI1/I Variant

Export this record

Export record to excel

Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Protocol f...

Export this record

Export record to excel

Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions

Refine your search