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Emmanuelle Ranza

Showing results (11-20 of 52) with videos related to

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The Pediatric Infectious Disease Journal|October 1, 2019
A 19-month-old Boy With Refractory Cervical AdenitisAnaïs Schneider, Emmanuelle Ranza, Alessandro Diana, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 7, 2020
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense VariantsMatthew R Taylor, E Anne Martin, Brooke Sinnen, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|April 27, 2023
Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sistersAnna Peirolo, Charlotte Verolet, Emmanuelle Ranza, et al.
Revue Medicale Suisse|July 19, 2016
[Hereditary haemorrhagic telangiectasia: importance of a multidisciplinary approach]Françoise Boehlen, Basile N Landis, Laurent Spahr, et al.
Neuropediatrics|June 22, 2019
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 MutationVincent Zimmern, Florence Riant, Emmanuel Roze, et al.
American Journal of Medical Genetics. Part A|February 11, 2020
SCN8A heterozygous variants are associated with anoxic-epileptic seizuresEmmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren, et al.
Developmental Medicine and Child Neurology|October 25, 2017
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case reportMary Kurian, Christian M Korff, Emmanuelle Ranza, et al.
Ophthalmology Science|November 28, 2024
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1Ferenc B Sallo, Chantal Dysli, Franz Josef Holzer, et al.
American Journal of Human Genetics|September 14, 2022
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsyMaria Lucia Cediel, Michal Stawarski, Xavier Blanc, et al.
American Journal of Medical Genetics. Part A|June 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyEmmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, et al.
Pageof 6

Showing results (11-20 of 52) with videos related to

Sort By:
Pageof 6
The Pediatric Infectious Disease Journal|October 1, 2019
A 19-month-old Boy With Refractory Cervical AdenitisAnaïs Schneider, Emmanuelle Ranza, Alessandro Diana, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 7, 2020
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense VariantsMatthew R Taylor, E Anne Martin, Brooke Sinnen, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|April 27, 2023
Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sistersAnna Peirolo, Charlotte Verolet, Emmanuelle Ranza, et al.
Revue Medicale Suisse|July 19, 2016
[Hereditary haemorrhagic telangiectasia: importance of a multidisciplinary approach]Françoise Boehlen, Basile N Landis, Laurent Spahr, et al.
Neuropediatrics|June 22, 2019
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 MutationVincent Zimmern, Florence Riant, Emmanuel Roze, et al.
American Journal of Medical Genetics. Part A|February 11, 2020
SCN8A heterozygous variants are associated with anoxic-epileptic seizuresEmmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren, et al.
Developmental Medicine and Child Neurology|October 25, 2017
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case reportMary Kurian, Christian M Korff, Emmanuelle Ranza, et al.
Ophthalmology Science|November 28, 2024
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1Ferenc B Sallo, Chantal Dysli, Franz Josef Holzer, et al.
American Journal of Human Genetics|September 14, 2022
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsyMaria Lucia Cediel, Michal Stawarski, Xavier Blanc, et al.
American Journal of Medical Genetics. Part A|June 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyEmmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, et al.
Pageof 6