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

Cecilie F Rustad

Showing results (11-20 of 32) with videos related to

Pageof 4
Sort By:
Orphanet Journal of Rare Diseases|December 8, 2020
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based studySvein O Fredwall, Unni Steen, Olga de Vries, et al.
Orphanet Journal of Rare Diseases|May 27, 2020
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based studySvein O Fredwall, Unni Steen, Olga de Vries, et al.
Neurogenetics|March 22, 2012
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosisMiriam J Smith, Andrew J Wallace, Naomi L Bowers, et al.
The British Journal of Dermatology|October 23, 2025
Clinical and genetic findings in 103 individuals with basal cell naevus syndrome in NorwayKarianne Haga Brandtzæg, Charlotte von der Lippe, Ingvild Kibsgaard Vestengen, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Hemasphere|January 25, 2020
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-upPanagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Orphanet Journal of Rare Diseases|December 8, 2020
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based studySvein O Fredwall, Unni Steen, Olga de Vries, et al.
Orphanet Journal of Rare Diseases|May 27, 2020
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based studySvein O Fredwall, Unni Steen, Olga de Vries, et al.
Neurogenetics|March 22, 2012
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosisMiriam J Smith, Andrew J Wallace, Naomi L Bowers, et al.
The British Journal of Dermatology|October 23, 2025
Clinical and genetic findings in 103 individuals with basal cell naevus syndrome in NorwayKarianne Haga Brandtzæg, Charlotte von der Lippe, Ingvild Kibsgaard Vestengen, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Hemasphere|January 25, 2020
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-upPanagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
Pageof 4