Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Rachel Straussberg

Showing results (51-60 of 85) with videos related to

Pageof 9
Sort By:
European Journal of Human Genetics : EJHG|April 10, 2021
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestationsMoran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, et al.
American Journal of Human Genetics|February 15, 2002
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, et al.
Emerging Infectious Diseases|January 24, 2023
Infant Botulism, Israel, 2007-2021Bar Goldberg, Dana Danino, Yoel Levinsky, et al.
BMC Medical Genetics|November 18, 2016
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from IsraelSharon Aharoni, Katy E S Barwick, Rachel Straussberg, et al.
Pediatric Neurology|May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Pediatric Neurology|October 3, 2013
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, et al.
American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.
Annals of Neurology|June 21, 2006
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosisLina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 10, 2018
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderNaama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|April 10, 2021
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestationsMoran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, et al.
American Journal of Human Genetics|February 15, 2002
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, et al.
Emerging Infectious Diseases|January 24, 2023
Infant Botulism, Israel, 2007-2021Bar Goldberg, Dana Danino, Yoel Levinsky, et al.
BMC Medical Genetics|November 18, 2016
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from IsraelSharon Aharoni, Katy E S Barwick, Rachel Straussberg, et al.
Pediatric Neurology|May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Pediatric Neurology|October 3, 2013
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, et al.
American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.
Annals of Neurology|June 21, 2006
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosisLina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 10, 2018
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderNaama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, et al.
Pageof 9