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

Swaroop Aradhya

Showing results (21-30 of 87) with videos related to

Pageof 9
Sort By:
Genes|December 24, 2021
X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in <i>PLS3</i>Petar Brlek, Darko Antičević, Vilim Molnar, et al.
Immunologic Research|May 29, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatmentJessica Quinn, Vicki Modell, Jennifer Holle, et al.
European Journal of Medical Genetics|April 27, 2012
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphismDagur Ingi Jonsson, Petur Ludvigsson, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A novel variant in GABRB2 associated with intellectual disability and epilepsySiddharth Srivastava, Julie Cohen, Jonathan Pevsner, et al.
Reproductive Biomedicine Online|January 18, 2022
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assayLauren Walters-Sen, Dana Neitzel, Sara L Bristow, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 9, 2020
Democratizing genomics: Leveraging software to make genetics an integral part of routine careMoran Snir, Shivani Nazareth, Emilie Simmons, et al.
JAMA Network Open|November 6, 2024
Clinical Variant Reclassification in Hereditary Disease Genetic TestingYuya Kobayashi, Elaine Chen, Flavia M Facio, et al.
Reproductive Biomedicine Online|May 6, 2022
The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriagesJenna Finley, Sara Hay, Jeannine Oldzej, et al.
Pediatric Blood & Cancer|May 1, 2019
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old femaleBrian P Tullius, Suma P Shankar, Stacey Cole, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
Pageof 9

Showing results (21-30 of 87) with videos related to

Sort By:
Pageof 9
Genes|December 24, 2021
X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in <i>PLS3</i>Petar Brlek, Darko Antičević, Vilim Molnar, et al.
Immunologic Research|May 29, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatmentJessica Quinn, Vicki Modell, Jennifer Holle, et al.
European Journal of Medical Genetics|April 27, 2012
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphismDagur Ingi Jonsson, Petur Ludvigsson, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A novel variant in GABRB2 associated with intellectual disability and epilepsySiddharth Srivastava, Julie Cohen, Jonathan Pevsner, et al.
Reproductive Biomedicine Online|January 18, 2022
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assayLauren Walters-Sen, Dana Neitzel, Sara L Bristow, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 9, 2020
Democratizing genomics: Leveraging software to make genetics an integral part of routine careMoran Snir, Shivani Nazareth, Emilie Simmons, et al.
JAMA Network Open|November 6, 2024
Clinical Variant Reclassification in Hereditary Disease Genetic TestingYuya Kobayashi, Elaine Chen, Flavia M Facio, et al.
Reproductive Biomedicine Online|May 6, 2022
The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriagesJenna Finley, Sara Hay, Jeannine Oldzej, et al.
Pediatric Blood & Cancer|May 1, 2019
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old femaleBrian P Tullius, Suma P Shankar, Stacey Cole, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
Pageof 9