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Michael A Simpson

Showing results (151-160 of 168) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Nature|May 24, 2013
Negligible impact of rare autoimmune-locus coding-region variants on missing heritabilityKaren A Hunt, Vanisha Mistry, Nicholas A Bockett, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
Genome Medicine|December 17, 2025
Genetic liability to psoriasis predicts severe disease outcomesJake R Saklatvala, Samuel Lessard, Maris Teder-Laving, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne riskJessye Maxwell, Brittany L Mitchell, Xinyi DuHarpur, et al.
Pageof 17

Showing results (151-160 of 168) with videos related to

Sort By:
Pageof 17
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Nature|May 24, 2013
Negligible impact of rare autoimmune-locus coding-region variants on missing heritabilityKaren A Hunt, Vanisha Mistry, Nicholas A Bockett, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
Genome Medicine|December 17, 2025
Genetic liability to psoriasis predicts severe disease outcomesJake R Saklatvala, Samuel Lessard, Maris Teder-Laving, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne riskJessye Maxwell, Brittany L Mitchell, Xinyi DuHarpur, et al.
Pageof 17