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Saskia Koene

Showing results (41-50 of 57) with videos related to

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Neurology|June 8, 2014
Serum FGF21 levels in adult m.3243A>G carriers: clinical implicationsSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.
Journal of Medical Genetics|December 20, 2023
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individualsSaskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, et al.
The Journal of Clinical Investigation|April 1, 2026
Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signalingMireia Coll-Tané, Ilse Eidhof, Jie Han, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Blood|November 17, 2021
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adultsMargaret A Ferris, Amanda M Smith, Sharon E Heath, et al.
Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
Molecular Syndromology|August 17, 2023
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the NetherlandsLisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2024
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2Snežana Hinić, Cezary Cybulski, Rachel S Van der Post, et al.
BMC Neurology|August 13, 2021
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 studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Neurology|June 8, 2014
Serum FGF21 levels in adult m.3243A>G carriers: clinical implicationsSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.
Journal of Medical Genetics|December 20, 2023
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individualsSaskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, et al.
The Journal of Clinical Investigation|April 1, 2026
Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signalingMireia Coll-Tané, Ilse Eidhof, Jie Han, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Blood|November 17, 2021
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adultsMargaret A Ferris, Amanda M Smith, Sharon E Heath, et al.
Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
Molecular Syndromology|August 17, 2023
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the NetherlandsLisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2024
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2Snežana Hinić, Cezary Cybulski, Rachel S Van der Post, et al.
BMC Neurology|August 13, 2021
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 studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Pageof 6