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

Saskia Biskup

Showing results (211-220 of 226) with videos related to

Pageof 23
Sort By:
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Communications|August 10, 2024
A real-world observation of patients with glioblastoma treated with a personalized peptide vaccinePauline Latzer, Henning Zelba, Florian Battke, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 23

Showing results (211-220 of 226) with videos related to

Sort By:
Pageof 23
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Communications|August 10, 2024
A real-world observation of patients with glioblastoma treated with a personalized peptide vaccinePauline Latzer, Henning Zelba, Florian Battke, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Pageof 23