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Rachel Straussberg

Showing results (31-40 of 85) with videos related to

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Neuropediatrics|July 7, 2020
Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the YearsRony Cohen, Hadassah Goldberg-Stern, Sara Kivity, et al.
Pediatric Rheumatology Online Journal|March 16, 2022
Rheumatic fever in a developed country - is it still relevant? A retrospective, 25 years follow-upRotem Tal, Mohamad Hamad Saied, Razi Zidani, et al.
Journal of Child Neurology|March 27, 2012
Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3Zaid Afawi, Haim Bassan, Sarah Heron, et al.
Neurogenetics|September 16, 2016
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2ARony Cohen, Ayelet Halevy, Sharon Aharoni, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?Daphna Marom, Adi Albin, Charles Schwartz, et al.
Metabolic Brain Disease|September 14, 2017
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levelsYoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 19, 2014
Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22Rony Cohen, Lina Basel-Vanagaite, Hadassah Goldberg-Stern, et al.
Journal of Child Neurology|May 23, 2003
Clinical experience with open-label topiramate use in infants younger than 2 years of ageNathan Watemberg, Hadassah Goldberg-Stern, Bruria Ben-Zeev, et al.
Blood|June 19, 2008
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for functionInbal Lasry, Bluma Berman, Rachel Straussberg, et al.
Pageof 9

Showing results (31-40 of 85) with videos related to

Sort By:
Pageof 9
Neuropediatrics|July 7, 2020
Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the YearsRony Cohen, Hadassah Goldberg-Stern, Sara Kivity, et al.
Pediatric Rheumatology Online Journal|March 16, 2022
Rheumatic fever in a developed country - is it still relevant? A retrospective, 25 years follow-upRotem Tal, Mohamad Hamad Saied, Razi Zidani, et al.
Journal of Child Neurology|March 27, 2012
Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3Zaid Afawi, Haim Bassan, Sarah Heron, et al.
Neurogenetics|September 16, 2016
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2ARony Cohen, Ayelet Halevy, Sharon Aharoni, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?Daphna Marom, Adi Albin, Charles Schwartz, et al.
Metabolic Brain Disease|September 14, 2017
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levelsYoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 19, 2014
Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22Rony Cohen, Lina Basel-Vanagaite, Hadassah Goldberg-Stern, et al.
Journal of Child Neurology|May 23, 2003
Clinical experience with open-label topiramate use in infants younger than 2 years of ageNathan Watemberg, Hadassah Goldberg-Stern, Bruria Ben-Zeev, et al.
Blood|June 19, 2008
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for functionInbal Lasry, Bluma Berman, Rachel Straussberg, et al.
Pageof 9