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Saskia Koene

Showing results (31-40 of 57) with videos related to

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American Journal of Medical Genetics. Part A|January 27, 2022
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1Saskia Koene, Jeroen Knijnenburg, Mariette J V Hoffer, et al.
Australian Occupational Therapy Journal|June 26, 2023
Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilitiesMarieke Rothuizen-Lindenschot, Maud J L Graff, Lonneke de Boer, et al.
European Journal of Pediatrics|October 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care contextMichelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|November 28, 2020
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplicationSaskia Koene, Cacha M P C D Peeters-Scholte, Jeroen Knijnenburg, et al.
JIMD Reports|May 14, 2015
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G CarriersSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.
JIMD Reports|January 17, 2017
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry ApproachSaskia Koene, Ilse Dirks, Esmee van Mierlo, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
American Journal of Medical Genetics. Part A|August 24, 2022
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation familySaskia Koene, Floortje Klerx-Melis, Arno Anne Willem Roest, et al.
JNCI Cancer Spectrum|June 7, 2024
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiencySnežana Hinić, Rachel S van der Post, Lilian Vreede, et al.
Journal of the Endocrine Society|March 2, 2022
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall StaturePeter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

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Pageof 6
American Journal of Medical Genetics. Part A|January 27, 2022
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1Saskia Koene, Jeroen Knijnenburg, Mariette J V Hoffer, et al.
Australian Occupational Therapy Journal|June 26, 2023
Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilitiesMarieke Rothuizen-Lindenschot, Maud J L Graff, Lonneke de Boer, et al.
European Journal of Pediatrics|October 27, 2023
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care contextMichelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|November 28, 2020
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplicationSaskia Koene, Cacha M P C D Peeters-Scholte, Jeroen Knijnenburg, et al.
JIMD Reports|May 14, 2015
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G CarriersSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.
JIMD Reports|January 17, 2017
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry ApproachSaskia Koene, Ilse Dirks, Esmee van Mierlo, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
American Journal of Medical Genetics. Part A|August 24, 2022
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation familySaskia Koene, Floortje Klerx-Melis, Arno Anne Willem Roest, et al.
JNCI Cancer Spectrum|June 7, 2024
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiencySnežana Hinić, Rachel S van der Post, Lilian Vreede, et al.
Journal of the Endocrine Society|March 2, 2022
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall StaturePeter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, et al.
Pageof 6