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

P Robertson

Showing results (981-990 of 1,005) with videos related to

Pageof 101
Sort By:
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Annals of Neurology|July 3, 2023
Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?Bo Chen, Enrique Gomez-Figueroa, Vyanka Redenbaugh, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Frontiers in Genetics|October 17, 2019
<i>Missense Pathogenic variants in KIF4A</i> Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-InvaginatusLord J J Gowans, Sophia Cameron-Christie, Rebecca L Slayton, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban, An Goris, Aslaug R Lorentzen, et al.
American Journal of Human Genetics|July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaEmma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
European Journal of Neurology|April 3, 2024
Real-world persistence of multiple sclerosis disease-modifying therapiesEmma C Tallantyre, Ruth Dobson, Joseph L J Froud, et al.
American Journal of Human Genetics|December 7, 2015
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMary J Gray, Peter Kannu, Swarkar Sharma, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Pageof 101

Showing results (981-990 of 1,005) with videos related to

Sort By:
Pageof 101
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Annals of Neurology|July 3, 2023
Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?Bo Chen, Enrique Gomez-Figueroa, Vyanka Redenbaugh, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Frontiers in Genetics|October 17, 2019
<i>Missense Pathogenic variants in KIF4A</i> Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-InvaginatusLord J J Gowans, Sophia Cameron-Christie, Rebecca L Slayton, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban, An Goris, Aslaug R Lorentzen, et al.
American Journal of Human Genetics|July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaEmma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
European Journal of Neurology|April 3, 2024
Real-world persistence of multiple sclerosis disease-modifying therapiesEmma C Tallantyre, Ruth Dobson, Joseph L J Froud, et al.
American Journal of Human Genetics|December 7, 2015
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMary J Gray, Peter Kannu, Swarkar Sharma, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Pageof 101