Saskia Koene

12PUBLICATIONS
36CO-AUTHORS
Infant and child healthCellular nervous systemDevelopmental genetics (incl. sex determination)Sensory processes, perception and performanceNeonatology
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Publications (12)

|Dec 20, 2023
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland

|Oct 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

Michelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers

|Aug 24, 2022
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

Saskia Koene, Floortje Klerx-Melis, Arno Anne Willem Roest

|Jun 20, 2022
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder.

Marieke Lindenschot, Saskia Koene, Melissa T Nott

|Jun 13, 2022
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges.

Marieke Lindenschot, Imelda J M de Groot, Maria W G Nijhuis-van der Sanden

|Jan 27, 2022
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.

Saskia Koene, Jeroen Knijnenburg, Mariette J V Hoffer

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Frequent Collaborators

2 joint publications

Esther M J Steultjens

2 joint publications

Maud J L Graff

2 joint publications

Maria W G Nijhuis-van der Sanden

2 joint publications

Imelda J M de Groot