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

Christine M Eng

Showing results (1-10 of 100) with videos related to

Pageof 10
Sort By:
The New England Journal of Medicine|October 4, 2018
Next-Generation Sequencing to Diagnose Suspected Genetic DisordersDavid R Adams, Christine M Eng
The New England Journal of Medicine|January 10, 2019
Next-Generation Sequencing to Diagnose Suspected Genetic DisordersDavid R Adams, Christine M Eng
The New England Journal of Medicine|March 14, 2014
Genetic diagnosis through whole-exome sequencingChristine M Eng, Yaping Yang, Sharon E Plon
Cold Spring Harbor Perspectives in Medicine|August 9, 2015
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene DisordersIgnatia B van den Veyver, Christine M Eng
Prenatal Diagnosis|April 3, 2012
Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosisAlecia S Willis, Ignatia van den Veyver, Christine M Eng
Expert Review of Molecular Diagnostics|November 1, 2005
Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysisBenjamin B Roa, Joseph Pulliam, Christine M Eng, et al.
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
International Journal of Pediatric Endocrinology|August 24, 2011
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationMeenal S Mendiratta, Yaping Yang, Andrea E Balazs, et al.
Journal of Child Neurology|May 19, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta, Michael B Tennison, Arthur S Aylsworth, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndromeMatteo Vatta, Zhiyv Niu, James R Lupski, et al.
Pageof 10

Showing results (1-10 of 100) with videos related to

Sort By:
Pageof 10
The New England Journal of Medicine|October 4, 2018
Next-Generation Sequencing to Diagnose Suspected Genetic DisordersDavid R Adams, Christine M Eng
The New England Journal of Medicine|January 10, 2019
Next-Generation Sequencing to Diagnose Suspected Genetic DisordersDavid R Adams, Christine M Eng
The New England Journal of Medicine|March 14, 2014
Genetic diagnosis through whole-exome sequencingChristine M Eng, Yaping Yang, Sharon E Plon
Cold Spring Harbor Perspectives in Medicine|August 9, 2015
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene DisordersIgnatia B van den Veyver, Christine M Eng
Prenatal Diagnosis|April 3, 2012
Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosisAlecia S Willis, Ignatia van den Veyver, Christine M Eng
Expert Review of Molecular Diagnostics|November 1, 2005
Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysisBenjamin B Roa, Joseph Pulliam, Christine M Eng, et al.
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
International Journal of Pediatric Endocrinology|August 24, 2011
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationMeenal S Mendiratta, Yaping Yang, Andrea E Balazs, et al.
Journal of Child Neurology|May 19, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta, Michael B Tennison, Arthur S Aylsworth, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndromeMatteo Vatta, Zhiyv Niu, James R Lupski, et al.
Pageof 10