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

Lisa A Schimmenti

Showing results (1-10 of 98) with videos related to

Pageof 10
Sort By:
European Journal of Human Genetics : EJHG|June 10, 2011
Renal coloboma syndromeLisa A Schimmenti
Ophthalmic Genetics|October 21, 2003
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndromeLisa A Schimmenti, Glenda S Manligas, Paul A Sieving
Ear and Hearing|November 6, 2023
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing LossAlaa Koleilat, Gayla L Poling, Lisa A Schimmenti, et al.
Retinal Cases & Brief Reports|November 9, 2020
ASSOCIATION OF PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY WITH A PATHOGENIC VARIANT IN THE HK1 GENESaumya M Shah, Lisa A Schimmenti, John Chiang, et al.
Clinical Dysmorphology|September 13, 2005
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21Eric A Crombez, Katrina M Dipple, Lisa A Schimmenti, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2026
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype CorrelationSetu Mittal, Emma F Johnson, Lisa A Schimmenti, et al.
Pediatric Cardiology|May 3, 2011
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 casesChristine B Hills, Lazaros Kochilas, Lisa A Schimmenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2003
Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafnessAriadna Martinez, Joyce Linden, Lisa A Schimmenti, et al.
Molecular Genetics and Metabolism|April 3, 2010
Next generation sequencing in research and diagnostics of ocular birth defectsGordana Raca, Craig Jackson, Berta Warman, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literatureBenjamin Brasseur, Cindy M Martin, Zuzan Cayci, et al.
Pageof 10

Showing results (1-10 of 98) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|June 10, 2011
Renal coloboma syndromeLisa A Schimmenti
Ophthalmic Genetics|October 21, 2003
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndromeLisa A Schimmenti, Glenda S Manligas, Paul A Sieving
Ear and Hearing|November 6, 2023
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing LossAlaa Koleilat, Gayla L Poling, Lisa A Schimmenti, et al.
Retinal Cases & Brief Reports|November 9, 2020
ASSOCIATION OF PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY WITH A PATHOGENIC VARIANT IN THE HK1 GENESaumya M Shah, Lisa A Schimmenti, John Chiang, et al.
Clinical Dysmorphology|September 13, 2005
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21Eric A Crombez, Katrina M Dipple, Lisa A Schimmenti, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2026
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype CorrelationSetu Mittal, Emma F Johnson, Lisa A Schimmenti, et al.
Pediatric Cardiology|May 3, 2011
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 casesChristine B Hills, Lazaros Kochilas, Lisa A Schimmenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2003
Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafnessAriadna Martinez, Joyce Linden, Lisa A Schimmenti, et al.
Molecular Genetics and Metabolism|April 3, 2010
Next generation sequencing in research and diagnostics of ocular birth defectsGordana Raca, Craig Jackson, Berta Warman, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literatureBenjamin Brasseur, Cindy M Martin, Zuzan Cayci, et al.
Pageof 10