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

Morad Ansari

Showing results (11-20 of 35) with videos related to

Pageof 4
Sort By:
Nature Genetics|June 7, 2019
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
European Journal of Human Genetics : EJHG|December 6, 2022
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testingLynne J Hocking, Claire Andrews, Christine Armstrong, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Journal of Neurology|December 14, 2022
Genotype-phenotype characterisation of long survivors with motor neuron disease in ScotlandDanielle J Leighton, Morad Ansari, Judith Newton, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Nature Genetics|June 7, 2019
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
European Journal of Human Genetics : EJHG|December 6, 2022
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testingLynne J Hocking, Claire Andrews, Christine Armstrong, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Journal of Neurology|December 14, 2022
Genotype-phenotype characterisation of long survivors with motor neuron disease in ScotlandDanielle J Leighton, Morad Ansari, Judith Newton, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Pageof 4