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Thomas C Markello

Showing results (31-40 of 49) with videos related to

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Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Plos Genetics|November 1, 2021
FOXR1 regulates stress response pathways and is necessary for proper brain developmentAndressa Mota, Hannah K Waxman, Rui Hong, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
MED23-associated intellectual disability in a non-consanguineous familyAditi Trehan, Jacqueline M Brady, Valerie Maduro, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
Blood|August 15, 2013
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndromeAdrianna Vlachos, Jason E Farrar, Eva Atsidaftos, et al.
The New England Journal of Medicine|February 4, 2011
NT5E mutations and arterial calcificationsCynthia St Hilaire, Shira G Ziegler, Thomas C Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
American Journal of Human Genetics|December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Plos Genetics|November 1, 2021
FOXR1 regulates stress response pathways and is necessary for proper brain developmentAndressa Mota, Hannah K Waxman, Rui Hong, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
MED23-associated intellectual disability in a non-consanguineous familyAditi Trehan, Jacqueline M Brady, Valerie Maduro, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
Blood|August 15, 2013
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndromeAdrianna Vlachos, Jason E Farrar, Eva Atsidaftos, et al.
The New England Journal of Medicine|February 4, 2011
NT5E mutations and arterial calcificationsCynthia St Hilaire, Shira G Ziegler, Thomas C Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
American Journal of Human Genetics|December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
Pageof 5