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Pagnamenta

Showing results (141-150 of 265) with videos related to

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Clinical Genetics|April 22, 2025
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory InsufficiencyLaura M Watts, Esther Kinning, Donald R Latner, et al.
European Journal of Human Genetics : EJHG|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screeningJ Fasham, A McPhater, R Whittington, et al.
Clinical Genetics|March 9, 2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopiaL Lange, A T Pagnamenta, S Lise, et al.
Neuromuscular Disorders : NMD|November 30, 2020
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporterPedro M Rodríguez Cruz, Imelda Hughes, Adnan Manzur, et al.
Neurology|December 21, 2019
Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke StudyBarbara Goeggel Simonetti, Mubeen F Rafay, Melissa Chung, et al.
European Journal of Human Genetics : EJHG|April 23, 2009
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collectionNuala H Sykes, Claudio Toma, Natalie Wilson, et al.
The European Respiratory Journal|March 23, 2018
Multicentre observational screening survey for the detection of CTEPH following pulmonary embolismNicolas Coquoz, Daniel Weilenmann, Daiana Stolz, et al.
Journal of Neurodevelopmental Disorders|April 13, 2011
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autismVeronica J Vieland, Joachim Hallmayer, Yungui Huang, et al.
Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
Pageof 27

Showing results (141-150 of 265) with videos related to

Sort By:
Pageof 27
Clinical Genetics|April 22, 2025
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory InsufficiencyLaura M Watts, Esther Kinning, Donald R Latner, et al.
European Journal of Human Genetics : EJHG|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screeningJ Fasham, A McPhater, R Whittington, et al.
Clinical Genetics|March 9, 2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopiaL Lange, A T Pagnamenta, S Lise, et al.
Neuromuscular Disorders : NMD|November 30, 2020
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporterPedro M Rodríguez Cruz, Imelda Hughes, Adnan Manzur, et al.
Neurology|December 21, 2019
Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke StudyBarbara Goeggel Simonetti, Mubeen F Rafay, Melissa Chung, et al.
European Journal of Human Genetics : EJHG|April 23, 2009
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collectionNuala H Sykes, Claudio Toma, Natalie Wilson, et al.
The European Respiratory Journal|March 23, 2018
Multicentre observational screening survey for the detection of CTEPH following pulmonary embolismNicolas Coquoz, Daniel Weilenmann, Daiana Stolz, et al.
Journal of Neurodevelopmental Disorders|April 13, 2011
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autismVeronica J Vieland, Joachim Hallmayer, Yungui Huang, et al.
Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
Pageof 27