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Rachel Thompson

Showing results (211-220 of 263) with videos related to

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Clinical Genetics|January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and HyperphagiaOzge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.
Plos Computational Biology|March 1, 2024
Ten simple rules for pushing boundaries of inclusion at academic eventsSiobhan Mackenzie Hall, Daniel Kochin, Carmel Carne, et al.
BMJ Open|April 29, 2024
Development of a patient decision aid for children and adolescents following anterior cruciate ligament rupture: an international mixed-methods studyAndrew R Gamble, Marnee J McKay, David B Anderson, et al.
Platelets|April 3, 2020
The basement membrane protein nidogen-1 supports platelet adhesion and activationHari Hara Sudhan Lakshmanan, Alexander R Melrose, Anna-Liisa I Sepp, et al.
Brain Pathology (Zurich, Switzerland)|March 3, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathiesMarc Pauper, Heike Kölbel, Iakowos Karakesisoglou, et al.
Molecular Neurobiology|March 21, 2023
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Molecular Neurobiology|January 24, 2023
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
Neuromuscular Disorders : NMD|April 26, 2024
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defectsKiran Polavarapu, Daniel O'Neil, Rachel Thompson, et al.
Implementation Science : IS|November 11, 2019
Investigation of factors influencing the implementation of two shared decision-making interventions in contraceptive care: a qualitative interview study among clinical and administrative staffSarah Munro, Ruth Manski, Kyla Z Donnelly, et al.
Pageof 27

Showing results (211-220 of 263) with videos related to

Sort By:
Pageof 27
Clinical Genetics|January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and HyperphagiaOzge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.
Plos Computational Biology|March 1, 2024
Ten simple rules for pushing boundaries of inclusion at academic eventsSiobhan Mackenzie Hall, Daniel Kochin, Carmel Carne, et al.
BMJ Open|April 29, 2024
Development of a patient decision aid for children and adolescents following anterior cruciate ligament rupture: an international mixed-methods studyAndrew R Gamble, Marnee J McKay, David B Anderson, et al.
Platelets|April 3, 2020
The basement membrane protein nidogen-1 supports platelet adhesion and activationHari Hara Sudhan Lakshmanan, Alexander R Melrose, Anna-Liisa I Sepp, et al.
Brain Pathology (Zurich, Switzerland)|March 3, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathiesMarc Pauper, Heike Kölbel, Iakowos Karakesisoglou, et al.
Molecular Neurobiology|March 21, 2023
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Molecular Neurobiology|January 24, 2023
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
Neuromuscular Disorders : NMD|April 26, 2024
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defectsKiran Polavarapu, Daniel O'Neil, Rachel Thompson, et al.
Implementation Science : IS|November 11, 2019
Investigation of factors influencing the implementation of two shared decision-making interventions in contraceptive care: a qualitative interview study among clinical and administrative staffSarah Munro, Ruth Manski, Kyla Z Donnelly, et al.
Pageof 27