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

Dragana Josifova

Showing results (1-10 of 34) with videos related to

Pageof 4
Sort By:
Human Genetics|June 29, 2007
Gene symbol: ALMS1K J Flintoff, Dragana Josifova
Pediatric Neurology|October 18, 2011
Early-onset cerebellar atrophy associated with mutation in the CACNA1A geneSwati Naik, Keith Pohl, Mohsin Malik, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 11, 2024
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorderJit Kai Tan, Gavin Arno, Dragana Josifova, et al.
European Journal of Human Genetics : EJHG|March 18, 2010
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalitiesAmy R Frost, Sabrina V Böhm, Raj N Sewduth, et al.
The Journal of Biological Chemistry|December 25, 2017
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanismsConor McClenaghan, Alex Hanson, Monica Sala-Rabanal, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Inherited 2q23.1 microdeletions involving the <i>MBD5</i> locusShereen Tadros, Rubin Wang, Jonathan J Waters, et al.
AJNR. American Journal of Neuroradiology|July 1, 2026
Comprehensive Structural MRI Phenotyping in <i>Oligophrenin 1-</i>Related Disorder Reveals Characteristic Brain MalformationsAsthik Biswas, Matthew T Whitehead, Parthiv Haldipur, et al.
American Journal of Medical Genetics. Part A|May 26, 2022
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disordersAishin Lok, Miguel A Fernandez-Garcia, Robert W Taylor, et al.
Developmental Medicine and Child Neurology|October 9, 2009
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 geneArtemis D Gika, Ata Siddiqui, Anthony J Hulse, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Human Genetics|June 29, 2007
Gene symbol: ALMS1K J Flintoff, Dragana Josifova
Pediatric Neurology|October 18, 2011
Early-onset cerebellar atrophy associated with mutation in the CACNA1A geneSwati Naik, Keith Pohl, Mohsin Malik, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 11, 2024
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorderJit Kai Tan, Gavin Arno, Dragana Josifova, et al.
European Journal of Human Genetics : EJHG|March 18, 2010
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalitiesAmy R Frost, Sabrina V Böhm, Raj N Sewduth, et al.
The Journal of Biological Chemistry|December 25, 2017
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanismsConor McClenaghan, Alex Hanson, Monica Sala-Rabanal, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Inherited 2q23.1 microdeletions involving the <i>MBD5</i> locusShereen Tadros, Rubin Wang, Jonathan J Waters, et al.
AJNR. American Journal of Neuroradiology|July 1, 2026
Comprehensive Structural MRI Phenotyping in <i>Oligophrenin 1-</i>Related Disorder Reveals Characteristic Brain MalformationsAsthik Biswas, Matthew T Whitehead, Parthiv Haldipur, et al.
American Journal of Medical Genetics. Part A|May 26, 2022
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disordersAishin Lok, Miguel A Fernandez-Garcia, Robert W Taylor, et al.
Developmental Medicine and Child Neurology|October 9, 2009
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 geneArtemis D Gika, Ata Siddiqui, Anthony J Hulse, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
Pageof 4