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Christin D Collins

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

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American Journal of Ophthalmology Case Reports|March 6, 2018
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological featuresRossana L Sanchez, Jiong Yan, Sarah Richards, et al.
Annals of the New York Academy of Sciences|February 9, 2005
Molecular pathways altered by insulin b9-23 immunizationSarah E Eckenrode, Qing-Guo Ruan, Christin D Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2021
Response to Biesecker et alJoseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, et al.
Hepatology (Baltimore, Md.)|April 30, 2003
Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell lineHaizhen Zhu, Hongshan Zhao, Christin D Collins, et al.
Molecular Autism|February 26, 2014
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosisSek Won Kong, Mustafa Sahin, Christin D Collins, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variantsJoseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Plos One|December 11, 2012
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disordersSek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Pageof 1

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

Sort By:
Pageof 1
American Journal of Ophthalmology Case Reports|March 6, 2018
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological featuresRossana L Sanchez, Jiong Yan, Sarah Richards, et al.
Annals of the New York Academy of Sciences|February 9, 2005
Molecular pathways altered by insulin b9-23 immunizationSarah E Eckenrode, Qing-Guo Ruan, Christin D Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2021
Response to Biesecker et alJoseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, et al.
Hepatology (Baltimore, Md.)|April 30, 2003
Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell lineHaizhen Zhu, Hongshan Zhao, Christin D Collins, et al.
Molecular Autism|February 26, 2014
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosisSek Won Kong, Mustafa Sahin, Christin D Collins, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variantsJoseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Plos One|December 11, 2012
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disordersSek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Pageof 1