Sylvia Huisman

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Sylvia Huisman, E. Redeker, Saskia M. Maas et al. · Journal of Medical Genetics · 2013 · 134 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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

Jeroen C. Vis, Hanneke Thoonsen, M. G. J. Duffels et al. · Archives of Physical Medicine and Rehabilitation · 2009 · 75 citations · Full text

Health Professions, Neurology, Physical Medicine +14

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

Fanny Mochel, Agnès Rastetter, Berten Ceulemans et al. · Brain · 2020 · 56 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Lianne C. Krab, Íñigo Marcos‐Alcalde, Melissa Assaf et al. · Human Genetics · 2020 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13