Saskia Koene

Leiden University Medical Center

Netherlands

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Articles (10)

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

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2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Collaborators (6)

Maria WG Nijhuis-van der Sanden

Emeritus Professor in alllied health sciences

Radboud University Medical Center

NETHERLANDS

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Florence van Tienen

Maastricht University Medical Centre

NETHERLANDS

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Melissa Nott

Charles Sturt University

AUSTRALIA

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Marije Meuwissen

BELGIUM

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Sofia Douzgou

Honorary Senior Lecturer

UNITED KINGDOM

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Virginie Verhoeven

Erasmus University Rotterdam

NETHERLANDS

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Saskia Koene

Research Interests

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Articles (10)

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder

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

DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Insight into Performance of Daily Activities in Real Life of A Child with Limited Physical, Cognitive and Communication Abilities: A Case Report

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Collaborators (6)

Maria WG Nijhuis-van der Sanden

Florence van Tienen

Melissa Nott

Marije Meuwissen

Sofia Douzgou

Virginie Verhoeven

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