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

Thomas C Markello

Showing results (1-10 of 49) with videos related to

Pageof 5
Sort By:
Current Protocols in Human Genetics|February 11, 2014
Genome-scale sequencing to identify genes involved in Mendelian disordersThomas C Markello, David R Adams
Molecular Genetics and Metabolism|November 10, 2012
An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arraysJason L Eccleston, Christopher Koh, Thomas C Markello, et al.
Journal of Neonatal-Perinatal Medicine|September 30, 2011
Trisomy 21 in one of extremely low birth weight twinsBenjamin D Solomon, Divya Balachandar, Karen Perry, et al.
Molecular Genetics and Metabolism|May 20, 2011
Reply to Professor Lefthériotis et alThomas C Markello, Cynthia St Hilaire, Shira G Ziegler, et al.
Ophthalmic Genetics|February 22, 2014
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus HeterogeneityTina Bui, Jonathan W Young, Ricardo F Frausto, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
Hypertension (Dallas, Tex. : 1979)|December 8, 2021
Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase ActivityHarish E Chatrathi, Jason C Collins, Lynne A Wolfe, et al.
Plos One|March 19, 2016
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaKathleen J Sweadner, Camilo Toro, Christopher T Whitlow, et al.
BMC Medical Genetics|April 2, 2011
PTPRF is disrupted in a patient with syndromic amastiaSurasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, et al.
BMC Medical Genomics|August 29, 2016
Explorations to improve the completeness of exome sequencingChen Du, Barbara N Pusey, Christopher J Adams, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Current Protocols in Human Genetics|February 11, 2014
Genome-scale sequencing to identify genes involved in Mendelian disordersThomas C Markello, David R Adams
Molecular Genetics and Metabolism|November 10, 2012
An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arraysJason L Eccleston, Christopher Koh, Thomas C Markello, et al.
Journal of Neonatal-Perinatal Medicine|September 30, 2011
Trisomy 21 in one of extremely low birth weight twinsBenjamin D Solomon, Divya Balachandar, Karen Perry, et al.
Molecular Genetics and Metabolism|May 20, 2011
Reply to Professor Lefthériotis et alThomas C Markello, Cynthia St Hilaire, Shira G Ziegler, et al.
Ophthalmic Genetics|February 22, 2014
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus HeterogeneityTina Bui, Jonathan W Young, Ricardo F Frausto, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
Hypertension (Dallas, Tex. : 1979)|December 8, 2021
Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase ActivityHarish E Chatrathi, Jason C Collins, Lynne A Wolfe, et al.
Plos One|March 19, 2016
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaKathleen J Sweadner, Camilo Toro, Christopher T Whitlow, et al.
BMC Medical Genetics|April 2, 2011
PTPRF is disrupted in a patient with syndromic amastiaSurasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, et al.
BMC Medical Genomics|August 29, 2016
Explorations to improve the completeness of exome sequencingChen Du, Barbara N Pusey, Christopher J Adams, et al.
Pageof 5