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

B Vincent

Showing results (491-500 of 551) with videos related to

Pageof 56
Sort By:
Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
Plos Genetics|March 4, 2021
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populationsJocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, et al.
American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.
Epigenetics & Chromatin|October 12, 2019
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2Alexia Martínez de Paz, Leila Khajavi, Hélène Martin, et al.
Molecular Psychiatry|December 21, 2011
Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorderD T Chen, X Jiang, N Akula, et al.
Blood|August 22, 2013
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylationMarcela Moncada-Vélez, Rubén Martinez-Barricarte, Dusan Bogunovic, et al.
Nature|July 18, 2014
ABCB5 is a limbal stem cell gene required for corneal development and repairBruce R Ksander, Paraskevi E Kolovou, Brian J Wilson, et al.
BMC Medical Genetics|June 25, 2015
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like FeaturesMuhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, et al.
Pageof 56

Showing results (491-500 of 551) with videos related to

Sort By:
Pageof 56
Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
Plos Genetics|March 4, 2021
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populationsJocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, et al.
American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.
Epigenetics & Chromatin|October 12, 2019
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2Alexia Martínez de Paz, Leila Khajavi, Hélène Martin, et al.
Molecular Psychiatry|December 21, 2011
Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorderD T Chen, X Jiang, N Akula, et al.
Blood|August 22, 2013
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylationMarcela Moncada-Vélez, Rubén Martinez-Barricarte, Dusan Bogunovic, et al.
Nature|July 18, 2014
ABCB5 is a limbal stem cell gene required for corneal development and repairBruce R Ksander, Paraskevi E Kolovou, Brian J Wilson, et al.
BMC Medical Genetics|June 25, 2015
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like FeaturesMuhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, et al.
Pageof 56