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

Laurie A Demmer

Showing results (1-10 of 18) with videos related to

Pageof 2
Sort By:
American Journal of Medical Genetics. Part A|March 16, 2013
Keratoconus in Costello syndromeKaren W Gripp, Laurie A Demmer
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Surveying the current landscape of clinical genetics residency trainingCaleb P Bupp, Laurie A Demmer, Robert A Saul
American Journal of Medical Genetics. Part A|December 21, 2013
A description of spina bifida cases and co-occurring malformations, 1976-2011Samantha E Parker, Mahsa M Yazdy, Allen A Mitchell, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 30, 2012
Maternal tea consumption during early pregnancy and the risk of spina bifidaMahsa M Yazdy, Sarah C Tinker, Allen A Mitchell, et al.
American Journal of Medical Genetics. Part A|February 28, 2006
The natural history of trisomy 12pReeval Segel, Inga Peter, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2010
Lessons learned from the introduction of personalized genotyping into a medical school curriculumDavid R Walt, Amy Kuhlik, Scott K Epstein, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 2, 2021
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Kandamurugu Manickam, Monica R McClain, Laurie A Demmer, et al.
Prenatal Diagnosis|April 22, 2009
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardiaAngela E Lin, Barbara O'Brien, Laurie A Demmer, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|March 16, 2013
Keratoconus in Costello syndromeKaren W Gripp, Laurie A Demmer
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Surveying the current landscape of clinical genetics residency trainingCaleb P Bupp, Laurie A Demmer, Robert A Saul
American Journal of Medical Genetics. Part A|December 21, 2013
A description of spina bifida cases and co-occurring malformations, 1976-2011Samantha E Parker, Mahsa M Yazdy, Allen A Mitchell, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 30, 2012
Maternal tea consumption during early pregnancy and the risk of spina bifidaMahsa M Yazdy, Sarah C Tinker, Allen A Mitchell, et al.
American Journal of Medical Genetics. Part A|February 28, 2006
The natural history of trisomy 12pReeval Segel, Inga Peter, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2010
Lessons learned from the introduction of personalized genotyping into a medical school curriculumDavid R Walt, Amy Kuhlik, Scott K Epstein, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 2, 2021
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Kandamurugu Manickam, Monica R McClain, Laurie A Demmer, et al.
Prenatal Diagnosis|April 22, 2009
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardiaAngela E Lin, Barbara O'Brien, Laurie A Demmer, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Pageof 2