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Anna C Jansen

Showing results (41-50 of 97) with videos related to

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Journal of Medical Genetics|March 5, 2017
Bi-allelic variants in <i>COL3A1</i> encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cystsLaura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, et al.
European Journal of Medical Genetics|November 5, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosisLaura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experienceDarcy A Krueger, Jamie K Capal, Paolo Curatolo, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
BMC Medicine|August 8, 2023
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROMAnnelieke R Müller, Michiel A J Luijten, Lotte Haverman, et al.
American Journal of Medical Genetics. Part A|November 18, 2020
The spectrum of brain malformations and disruptions in twinsKaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Annals of Clinical and Translational Neurology|July 25, 2020
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Romina Moavero, Katarzyna Kotulska, Lieven Lagae, et al.
Journal of Clinical Medicine|June 6, 2019
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP StudyRomina Moavero, Arianna Benvenuto, Leonardo Emberti Gialloreti, et al.
Pageof 10

Showing results (41-50 of 97) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|March 5, 2017
Bi-allelic variants in <i>COL3A1</i> encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cystsLaura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, et al.
European Journal of Medical Genetics|November 5, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosisLaura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experienceDarcy A Krueger, Jamie K Capal, Paolo Curatolo, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
BMC Medicine|August 8, 2023
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROMAnnelieke R Müller, Michiel A J Luijten, Lotte Haverman, et al.
American Journal of Medical Genetics. Part A|November 18, 2020
The spectrum of brain malformations and disruptions in twinsKaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Annals of Clinical and Translational Neurology|July 25, 2020
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Romina Moavero, Katarzyna Kotulska, Lieven Lagae, et al.
Journal of Clinical Medicine|June 6, 2019
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP StudyRomina Moavero, Arianna Benvenuto, Leonardo Emberti Gialloreti, et al.
Pageof 10