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Saskia Koene

Showing results (21-30 of 57) with videos related to

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Journal of Inherited Metabolic Disease|March 14, 2018
Quantification of gait in children with mitochondrial diseaseSaskia Koene, Niki M Stolwijk, Rob Ramakers, et al.
JIMD Reports|February 23, 2013
Inheritance of the m.3243A>G mutationPaul de Laat, Saskia Koene, Lambert P W J Vd Heuvel, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Epilepsia Open|August 11, 2021
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomesAnna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, et al.
Physical & Occupational Therapy in Pediatrics|June 13, 2022
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation ChallengesMarieke Lindenschot, Imelda J M de Groot, Maria W G Nijhuis-van der Sanden, et al.
Journal of Inherited Metabolic Disease|March 10, 2012
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationPaul de Laat, Saskia Koene, Lambert P W J van den Heuvel, et al.
Research in Developmental Disabilities|November 1, 2025
Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individualsSaskia Koene, Marieke Rothuizen-Lindenschot, Fabienne G Ropers, et al.
Clinical Pharmacology and Therapeutics|July 31, 2018
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum DisordersMirian C H Janssen, Saskia Koene, Paul de Laat, et al.
Orphanet Journal of Rare Diseases|March 27, 2020
Psychological functioning in children suspected for mitochondrial disease: the need for careKim F E van de Loo, José A E Custers, Saskia Koene, et al.
Disability and Rehabilitation|June 20, 2022
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorderMarieke Lindenschot, Saskia Koene, Melissa T Nott, et al.
Pageof 6

Showing results (21-30 of 57) with videos related to

Sort By:
Pageof 6
Journal of Inherited Metabolic Disease|March 14, 2018
Quantification of gait in children with mitochondrial diseaseSaskia Koene, Niki M Stolwijk, Rob Ramakers, et al.
JIMD Reports|February 23, 2013
Inheritance of the m.3243A>G mutationPaul de Laat, Saskia Koene, Lambert P W J Vd Heuvel, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Epilepsia Open|August 11, 2021
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomesAnna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, et al.
Physical & Occupational Therapy in Pediatrics|June 13, 2022
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation ChallengesMarieke Lindenschot, Imelda J M de Groot, Maria W G Nijhuis-van der Sanden, et al.
Journal of Inherited Metabolic Disease|March 10, 2012
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationPaul de Laat, Saskia Koene, Lambert P W J van den Heuvel, et al.
Research in Developmental Disabilities|November 1, 2025
Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individualsSaskia Koene, Marieke Rothuizen-Lindenschot, Fabienne G Ropers, et al.
Clinical Pharmacology and Therapeutics|July 31, 2018
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum DisordersMirian C H Janssen, Saskia Koene, Paul de Laat, et al.
Orphanet Journal of Rare Diseases|March 27, 2020
Psychological functioning in children suspected for mitochondrial disease: the need for careKim F E van de Loo, José A E Custers, Saskia Koene, et al.
Disability and Rehabilitation|June 20, 2022
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorderMarieke Lindenschot, Saskia Koene, Melissa T Nott, et al.
Pageof 6