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

A Gibbs

Showing results (731-740 of 1,165) with videos related to

Pageof 117
Sort By:
Frontiers in Pediatrics|June 7, 2021
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the LiteratureJosefina Longeri Contreras, Mabel A Ladino, Katherine Aránguiz, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
<i>Celeste</i>: A cloud-based genomics infrastructure with variant-calling pipeline suited for population-scale sequencing projectsNoora Siddiqui, Breanna Lee, Victoria Yi, et al.
American Journal of Medical Genetics. Part A|April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathyRuizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
Human Mutation|September 9, 2011
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosisXia Wang, Hui Wang, Ming Cao, et al.
Journal of Thrombosis and Haemostasis : JTH|May 8, 2013
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosisL A Lotta, G Tuana, J Yu, et al.
JBMR Plus|March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
Nature Genetics|November 10, 2015
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genesLinghua Wang, Xiao Ni, Kyle R Covington, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 6, 2009
Common and rare variants of DAOA in bipolar disorderManjula Maheshwari, Jiajun Shi, Judith A Badner, et al.
BMC Medical Genetics|June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndromeClaudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndromeYunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Pageof 117

Showing results (731-740 of 1,165) with videos related to

Sort By:
Pageof 117
Frontiers in Pediatrics|June 7, 2021
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the LiteratureJosefina Longeri Contreras, Mabel A Ladino, Katherine Aránguiz, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
<i>Celeste</i>: A cloud-based genomics infrastructure with variant-calling pipeline suited for population-scale sequencing projectsNoora Siddiqui, Breanna Lee, Victoria Yi, et al.
American Journal of Medical Genetics. Part A|April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathyRuizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
Human Mutation|September 9, 2011
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosisXia Wang, Hui Wang, Ming Cao, et al.
Journal of Thrombosis and Haemostasis : JTH|May 8, 2013
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosisL A Lotta, G Tuana, J Yu, et al.
JBMR Plus|March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
Nature Genetics|November 10, 2015
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genesLinghua Wang, Xiao Ni, Kyle R Covington, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 6, 2009
Common and rare variants of DAOA in bipolar disorderManjula Maheshwari, Jiajun Shi, Judith A Badner, et al.
BMC Medical Genetics|June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndromeClaudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndromeYunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Pageof 117