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Pagnamenta

Showing results (191-200 of 265) with videos related to

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Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Frontiers in Neurology|March 6, 2024
Sex differences in functional outcomes of intravenous thrombolysis among patients with lacunar strokePatrizia Wueger, Roberta Noseda, Alberto Pagnamenta, et al.
Nature Communications|April 25, 2019
Sequencing of human genomes with nanopore technologyRory Bowden, Robert W Davies, Andreas Heger, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
CNS Drugs|March 28, 2023
Sex Differences in Outcomes of Intravenous Thrombolysis in Acute Ischemic Stroke Patients with Preadmission Use of AntiplateletsRoberta Noseda, Federico Rea, Alberto Pagnamenta, et al.
Human Molecular Genetics|August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and miceAlistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Gut|March 21, 2014
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMSDan Rosmarin, Claire Palles, Alistair Pagnamenta, et al.
Pageof 27

Showing results (191-200 of 265) with videos related to

Sort By:
Pageof 27
Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Frontiers in Neurology|March 6, 2024
Sex differences in functional outcomes of intravenous thrombolysis among patients with lacunar strokePatrizia Wueger, Roberta Noseda, Alberto Pagnamenta, et al.
Nature Communications|April 25, 2019
Sequencing of human genomes with nanopore technologyRory Bowden, Robert W Davies, Andreas Heger, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
CNS Drugs|March 28, 2023
Sex Differences in Outcomes of Intravenous Thrombolysis in Acute Ischemic Stroke Patients with Preadmission Use of AntiplateletsRoberta Noseda, Federico Rea, Alberto Pagnamenta, et al.
Human Molecular Genetics|August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and miceAlistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Gut|March 21, 2014
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMSDan Rosmarin, Claire Palles, Alistair Pagnamenta, et al.
Pageof 27