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

F Brady

Showing results (591-600 of 627) with videos related to

Pageof 63
Sort By:
Nature Genetics|January 29, 2013
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosisVikram P Sharma, Aimée L Fenwick, Mia S Brockop, et al.
Gynecologie, Obstetrique & Fertilite|September 21, 2000
[Epithelial ovarian cancer (advanced stage): consensus conference (1998)]J S Berek, K Bertelsen, A du Bois, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Clinical Endocrinology|September 24, 2021
SDHC phaeochromocytoma and paraganglioma: A UK-wide case seriesSophie T Williams, Prodromos Chatzikyriakou, Paul V Carroll, et al.
HGG Advances|September 22, 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|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Human Molecular Genetics|November 11, 2011
Gene-gene interactions in breast cancer susceptibilityClare Turnbull, Sheila Seal, Anthony Renwick, 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.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
Pageof 63

Showing results (591-600 of 627) with videos related to

Sort By:
Pageof 63
Nature Genetics|January 29, 2013
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosisVikram P Sharma, Aimée L Fenwick, Mia S Brockop, et al.
Gynecologie, Obstetrique & Fertilite|September 21, 2000
[Epithelial ovarian cancer (advanced stage): consensus conference (1998)]J S Berek, K Bertelsen, A du Bois, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Clinical Endocrinology|September 24, 2021
SDHC phaeochromocytoma and paraganglioma: A UK-wide case seriesSophie T Williams, Prodromos Chatzikyriakou, Paul V Carroll, et al.
HGG Advances|September 22, 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|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Human Molecular Genetics|November 11, 2011
Gene-gene interactions in breast cancer susceptibilityClare Turnbull, Sheila Seal, Anthony Renwick, 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.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
Pageof 63