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Journal / Neuroscience / En ny strategi kombinera Array-CGH, hela-exome…
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Neuroscience

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JoVE Journal Neuroscience
En ny strategi kombinera Array-CGH, hela-exome sekvensering och In Utero elektroporation hos gnagare att identifiera orsakande gener för hjärnan missbildningar
Conditions Affecting Social Space in Drosophila melanogaster
Journal (Neuroscience)
Conditions Affecting Social Space in Drosophila melanogaster
In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Journal (Neuroscience)
In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
 
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En ny strategi kombinera Array-CGH, hela-exome sekvensering och In Utero elektroporation hos gnagare att identifiera orsakande gener för hjärnan missbildningar

Article DOI: 10.3791/53570-v • 08:22 min • December 1st, 2017
December 1st, 2017 •
*1, *2,3,15, 2,3,4, 5,6,7, 2,3,8, 1, 2,3, 2,3, 2,3,8, 9, 10, 10, 11, 10, 9,12, 2,3, 13, 1,14, 2,3, 2,3
1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University
* These authors contributed equally

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Periventrikulär nodulär heterotopia (PNH) är den vanligaste formen av missbildning av kortikala utveckling (MCD) i vuxen ålder men dess genetiska grunden förblir okänd i mest sporadiska fall. Vi har nyligen utvecklat en strategi att identifiera nya kandidatgener för MCDs och direkt bekräfta deras orsakande roll i vivo.

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Neurovetenskap fråga 130 missbildningar av kortikala utveckling array-CGH hela-exome sekvensering i livmodern elektroporation djurmodell RNA-interferens
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