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/vufind/Search/Results?lookfor=%22Koene%2C+Saskia%22&type=Person&sort=year
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PubPharm (111)
1
Clinical phenotype of FOXP1 syndrome : parent-reported medical signs and symptoms in 40 individuals
enthalten in:
Journal of medical genetics
| 2024
von
Koene, S.
|
Ropers, F.
|
Wieland, J.
| +10
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2
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Hinić, S.
|
Cybulski, C.
|
Van der Post, R.
| +27
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3
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
enthalten in:
European journal of pediatrics
| 2024
von
van Slobbe, M.
|
van Haeringen, A.
|
Vissers, L.
| +6
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4
Using PRPP-Assessment for measuring change in everyday activities by home-based videos : An exploratory case series study in children with multiple disabilities
enthalten in:
Australian occupational therapy journal
| 2023
von
Rothuizen-Lindenschot, M.
|
Graff, M.
|
de Boer, L.
| +4
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5
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
enthalten in:
ResearchSquare.com
| 2023
von
Slobbe, M.
|
Haeringen, A.
|
Vissers, L.
| +6
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6
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
enthalten in:
European journal of pediatrics
| 2023
von
van Slobbe, M.
|
van Haeringen, A.
|
Vissers, L.
| +6
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7
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands
enthalten in:
Molecular syndromology
| 2023
von
Wurfbain, L.
|
Cox, I.
|
van Dooren, M.
| +12
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8
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder
enthalten in:
Disability and rehabilitation
| 2023
von
Lindenschot, M.
|
Koene, S.
|
Nott, M.
| +4
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9
Tailored interviewing to uncover the perspectives of children with multiple disabilities on daily activities : A qualitative analyses of interview methods and interviewer skills
enthalten in:
Australian occupational therapy journal
| 2023
von
Steultjens, E.
|
Lindenschot, M.
|
Diepeveen, S.
| +5
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10
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Aerden, M.
|
Denommé-Pichon, A.
|
Bonneau, D.
| +55
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Journal of inherited metabolic disease
13
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American Journal of Medical Genetics Part C: Se...
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2020-
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