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Clinical Genetics
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January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.
Plos Computational Biology
|
March 1, 2024
Ten simple rules for pushing boundaries of inclusion at academic events
Siobhan 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 study
Andrew R Gamble, Marnee J McKay, David B Anderson, et al.
Platelets
|
April 3, 2020
The basement membrane protein nidogen-1 supports platelet adhesion and activation
Hari 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 envelopathies
Marc 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 Function
Andreas 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 Syndromes
Iker 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 Function
Andreas 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 defects
Kiran 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 staff
Sarah Munro, Ruth Manski, Kyla Z Donnelly, et al.
Page
of 27
Search research articles
Search
Showing results (211-220 of 263) with videos related to
Sort By:
Page
of 27
Clinical Genetics
|
January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.
Plos Computational Biology
|
March 1, 2024
Ten simple rules for pushing boundaries of inclusion at academic events
Siobhan 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 study
Andrew R Gamble, Marnee J McKay, David B Anderson, et al.
Platelets
|
April 3, 2020
The basement membrane protein nidogen-1 supports platelet adhesion and activation
Hari 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 envelopathies
Marc 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 Function
Andreas 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 Syndromes
Iker 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 Function
Andreas 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 defects
Kiran 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 staff
Sarah Munro, Ruth Manski, Kyla Z Donnelly, et al.
Page
of 27