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

Barry Eng

Showing results (31-40 of 41) with videos related to

Pageof 5
Sort By:
Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.
Annals of the New York Academy of Sciences|December 13, 2005
Prenatal diagnosis of hemoglobinopathies in Ontario, CanadaRaveen K Basran, Margie Patterson, Lynda Walker, et al.
Hemoglobin|June 10, 2026
Hb F-SickKids (<i>HBG2</i>: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal CyanosisLandry E Nfonsam, Meredith Hanna, Lisa Nakamura, et al.
Hemoglobin|March 11, 2020
Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT<i>T</i>>TT<i>G</i>); <i>HBB</i>: c.258T>G]Ibrahim Al Nabhani, John C Aneke, Madeleine Verhovsek, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndromeMałgorzata J M Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, et al.
American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.
Cancer Genetics|November 1, 2019
ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletionHeleen H Arts, Lorrie Lynch, Daria Grafodatskaya, et al.
Human Mutation|June 15, 2005
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)John S Waye, Patrycja A Krakowiak, Christopher A Wassif, et al.
American Journal of Hematology|October 31, 2003
Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosisJohn S Waye, Margaret Patterson, Lynda Walker, et al.
The Journal of Molecular Diagnostics : JMD|July 5, 2016
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel AnalysisLaila C Schenkel, Jennifer Kerkhof, Alan Stuart, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.
Annals of the New York Academy of Sciences|December 13, 2005
Prenatal diagnosis of hemoglobinopathies in Ontario, CanadaRaveen K Basran, Margie Patterson, Lynda Walker, et al.
Hemoglobin|June 10, 2026
Hb F-SickKids (<i>HBG2</i>: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal CyanosisLandry E Nfonsam, Meredith Hanna, Lisa Nakamura, et al.
Hemoglobin|March 11, 2020
Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT<i>T</i>>TT<i>G</i>); <i>HBB</i>: c.258T>G]Ibrahim Al Nabhani, John C Aneke, Madeleine Verhovsek, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndromeMałgorzata J M Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, et al.
American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.
Cancer Genetics|November 1, 2019
ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletionHeleen H Arts, Lorrie Lynch, Daria Grafodatskaya, et al.
Human Mutation|June 15, 2005
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)John S Waye, Patrycja A Krakowiak, Christopher A Wassif, et al.
American Journal of Hematology|October 31, 2003
Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosisJohn S Waye, Margaret Patterson, Lynda Walker, et al.
The Journal of Molecular Diagnostics : JMD|July 5, 2016
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel AnalysisLaila C Schenkel, Jennifer Kerkhof, Alan Stuart, et al.
Pageof 5