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Showing results (301-310 of 333) with videos related to

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Neurology|December 30, 2025
NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of LifeAyan S Mandal, Russell T Shinohara, Benjamin Jung, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Journal of Attention Disorders|December 17, 2019
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1Jonathan M Payne, Kristina M Haebich, Rachel MacKenzie, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Molecular Autism|July 2, 2026
Autism in neurofibromatosis type 1: prevalence, phenotype and clinical implicationsJonathan M Payne, Kristina M Haebich, Anita K Chisholm, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Nature Genetics|October 3, 1999
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyK J Nowak, D Wattanasirichaigoon, H H Goebel, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Back to the future: proceedings from the 2010 NF ConferenceSusan M Huson, Maria T Acosta, Allan J Belzberg, et al.
Pageof 34

Showing results (301-310 of 333) with videos related to

Sort By:
Pageof 34
Neurology|December 30, 2025
NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of LifeAyan S Mandal, Russell T Shinohara, Benjamin Jung, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Journal of Attention Disorders|December 17, 2019
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1Jonathan M Payne, Kristina M Haebich, Rachel MacKenzie, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Molecular Autism|July 2, 2026
Autism in neurofibromatosis type 1: prevalence, phenotype and clinical implicationsJonathan M Payne, Kristina M Haebich, Anita K Chisholm, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Nature Genetics|October 3, 1999
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyK J Nowak, D Wattanasirichaigoon, H H Goebel, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Back to the future: proceedings from the 2010 NF ConferenceSusan M Huson, Maria T Acosta, Allan J Belzberg, et al.
Pageof 34