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 (21-30 of 49) with videos related to

Pageof 5
Sort By:
Molecular Genetics and Metabolism|March 5, 2011
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticumThomas C Markello, Laura K Pak, Cynthia St Hilaire, et al.
Molecular Genetics and Metabolism|January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filteringThomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.
The Journal of Investigative Dermatology|June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblingsFangning Gu, Anchi Wu, M Grace Gordon, et al.
Human Mutation|February 8, 2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegiaCristina Dias, Murat Sincan, Praveen F Cherukuri, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
Nature Communications|February 8, 2014
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathyHongjie Yuan, Kasper B Hansen, Jing Zhang, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
Molecular Genetics and Metabolism|January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution functionThomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.
Plos Genetics|May 25, 2019
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotypePrashant Sharma, Marie Reichert, Yan Lu, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|March 5, 2011
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticumThomas C Markello, Laura K Pak, Cynthia St Hilaire, et al.
Molecular Genetics and Metabolism|January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filteringThomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.
The Journal of Investigative Dermatology|June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblingsFangning Gu, Anchi Wu, M Grace Gordon, et al.
Human Mutation|February 8, 2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegiaCristina Dias, Murat Sincan, Praveen F Cherukuri, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
Nature Communications|February 8, 2014
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathyHongjie Yuan, Kasper B Hansen, Jing Zhang, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
Molecular Genetics and Metabolism|January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution functionThomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.
Plos Genetics|May 25, 2019
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotypePrashant Sharma, Marie Reichert, Yan Lu, et al.
Pageof 5