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

Nancy B Spinner

Showing results (101-110 of 140) with videos related to

Pageof 14
Sort By:
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
American Journal of Human Genetics|July 23, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretationMelissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7Consuelo Salas-Labadía, David E Cervantes-Barragán, Roberto Cruz-Alcívar, et al.
Nucleic Acids Research|May 8, 2010
Genome-wide DNA methylation analysis in cohesin mutant human cell linesJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Cellular and Molecular Gastroenterology and Hepatology|January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeEllen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
American Journal of Medical Genetics. Part A|March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomyJennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Pageof 14

Showing results (101-110 of 140) with videos related to

Sort By:
Pageof 14
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
American Journal of Human Genetics|July 23, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretationMelissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7Consuelo Salas-Labadía, David E Cervantes-Barragán, Roberto Cruz-Alcívar, et al.
Nucleic Acids Research|May 8, 2010
Genome-wide DNA methylation analysis in cohesin mutant human cell linesJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Cellular and Molecular Gastroenterology and Hepatology|January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeEllen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
American Journal of Medical Genetics. Part A|March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomyJennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Pageof 14