Concepedia

Author

Sylvia Huisman

University of AmsterdamORCID

Also Known As

Rianne De Bruin-Bon, S A Huisman, S. A. Huisman, S.A. Huisman, Sylvia A Huisman, Sylvia A. Huisman, Sylvia Huisman

48

Publications

1.4K

Citations

16

H-Index

19

Concepts

All Affiliations

University of AmsterdamAmsterdam University Medical CentersAmsterdam UMC Location University of AmsterdamIpse de BruggenInserm
SH

About

Sylvia Huisman is an author at University of Amsterdam specializing in medicine, kinesiology, and rehabilitation.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

125

2

Health Sciences

2

2

100

3

Kinesiology

2

2

100

4

Exercise Physiology

1

1

25

5

Family Medicine

1

1

13

Sylvia Huisman

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17

Publications

634

Citations

13

H-Index

YearCitations

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Sylvia Huisman, E. Redeker, Saskia M. Maas,

Journal of Medical Genetics

2013

133

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker,

American Journal of Medical Genetics Part A

2017

94

Six-Minute Walk Test in Patients With Down Syndrome: Validity and Reproducibility

Jeroen C. Vis, Hanneke Thoonsen, M. G. J. Duffels,

Archives of Physical Medicine and Rehabilitation

2009

75

Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders

Fanny Mochel, Agnès Rastetter, Berten Ceulemans,

Brain

2020

52

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Lianne C. Krab, Íñigo Marcos‐Alcalde, Melissa Assaf,

Human Genetics

2020

40

Congenital heart defects are under-recognised in adult patients with Down's syndrome

J. C. Vis, Rianne H. de Bruin-Bon, Berto J. Bouma,

Heart

2010

39

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup,

Journal of Medical Genetics

2024

34

Siblings’ and parents’ perspectives on the future care for their family member with profound intellectual and multiple disabilities: A qualitative study

Kasper Kruithof, Lisa IJzerman, Appolonia Nieuwenhuijse,

Journal of Intellectual & Developmental Disability

2021

32

‘The sedentary heart’: Physical inactivity is associated with cardiac atrophy in adults with an intellectual disability

Jeroen C. Vis, Rianne H. de Bruin-Bon, Berto J. Bouma,

International Journal of Cardiology

2011

25

Adults with Down syndrome have reduced cardiac response after light exercise testing

J. C. Vis, H A C M De Bruin-Bon, Berto J. Bouma,

Netherlands Heart Journal

2012

19

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