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

Laura K Conlin

Showing results (31-40 of 85) with videos related to

Pageof 9
Sort By:
The Journal of Investigative Dermatology|September 7, 2013
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticumQiaoli Li, Jill L Brodsky, Laura K Conlin, et al.
Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
American Journal of Medical Genetics. Part A|December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP arrayKosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
BMC Medical Genetics|December 23, 2011
Mechanisms of ring chromosome formation, ring instability and clinical consequencesRoberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of <i>ANKRD11</i> Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
Molecular Syndromology|August 17, 2023
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive DevelopmentKosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, et al.
JAMA Network Open|April 13, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset EpilepsyJorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, et al.
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.
Pageof 9

Showing results (31-40 of 85) with videos related to

Sort By:
Pageof 9
The Journal of Investigative Dermatology|September 7, 2013
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticumQiaoli Li, Jill L Brodsky, Laura K Conlin, et al.
Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
American Journal of Medical Genetics. Part A|December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP arrayKosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
BMC Medical Genetics|December 23, 2011
Mechanisms of ring chromosome formation, ring instability and clinical consequencesRoberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of <i>ANKRD11</i> Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
Molecular Syndromology|August 17, 2023
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive DevelopmentKosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, et al.
JAMA Network Open|April 13, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset EpilepsyJorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, et al.
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.
Pageof 9