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Suzanne C E H Sallevelt

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Molecular Genetics and Metabolism|January 5, 2016
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment optionsMike Gerards, Suzanne C E H Sallevelt, Hubert J M Smeets
Handbook of Clinical Neurology|February 22, 2023
Reproductive options in mitochondrial diseaseHubert J M Smeets, Suzanne C E H Sallevelt, Mary Herbert
Neurology. Genetics|March 12, 2021
Biallelic Variants in the <i>COLGALT1</i> Gene Causes Severe Congenital Porencephaly: A Case ReportMariel W A Teunissen, Erik-Jan Kamsteeg, Suzanne C E H Sallevelt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
A comprehensive strategy for exome-based preconception carrier screeningSuzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, et al.
Annals of the New York Academy of Sciences|August 28, 2015
Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosisHubert J M Smeets, Suzanne C E H Sallevelt, Jos C F M Dreesen, et al.
Neuroimage. Clinical|June 6, 2018
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI studyRoy A M Haast, Dimo Ivanov, Rutger J T IJsselstein, et al.
Journal of Medical Genetics|July 3, 2017
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere sufficesSuzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, et al.
European Journal of Human Genetics : EJHG|April 27, 2017
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotypeDebby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, et al.
Molecular Vision|October 26, 2022
The phenotypic spectrum of <i>ADAMTSL4-</i>associated ectopia lentis: Additional cases, complications, and review of literatureLachlan S W Knight, Sean Mullany, Deepa A Taranath, et al.
Journal of Medical Genetics|July 25, 2016
De novo mtDNA point mutations are common and have a low recurrence riskSuzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|January 5, 2016
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment optionsMike Gerards, Suzanne C E H Sallevelt, Hubert J M Smeets
Handbook of Clinical Neurology|February 22, 2023
Reproductive options in mitochondrial diseaseHubert J M Smeets, Suzanne C E H Sallevelt, Mary Herbert
Neurology. Genetics|March 12, 2021
Biallelic Variants in the <i>COLGALT1</i> Gene Causes Severe Congenital Porencephaly: A Case ReportMariel W A Teunissen, Erik-Jan Kamsteeg, Suzanne C E H Sallevelt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
A comprehensive strategy for exome-based preconception carrier screeningSuzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, et al.
Annals of the New York Academy of Sciences|August 28, 2015
Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosisHubert J M Smeets, Suzanne C E H Sallevelt, Jos C F M Dreesen, et al.
Neuroimage. Clinical|June 6, 2018
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI studyRoy A M Haast, Dimo Ivanov, Rutger J T IJsselstein, et al.
Journal of Medical Genetics|July 3, 2017
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere sufficesSuzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, et al.
European Journal of Human Genetics : EJHG|April 27, 2017
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotypeDebby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, et al.
Molecular Vision|October 26, 2022
The phenotypic spectrum of <i>ADAMTSL4-</i>associated ectopia lentis: Additional cases, complications, and review of literatureLachlan S W Knight, Sean Mullany, Deepa A Taranath, et al.
Journal of Medical Genetics|July 25, 2016
De novo mtDNA point mutations are common and have a low recurrence riskSuzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, et al.
Pageof 3