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K G Tan

Showing results (51-60 of 195) with videos related to

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Journal of Personalized Medicine|November 24, 2022
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine PipelineMakenzie Beaman, Kimberley Fisher, Marie McDonald, et al.
The Journal of Pediatrics|February 18, 2015
Premature pubarche in children with Pompe diseaseQueenie K-G Tan, David W Stockton, Eniko Pivnick, et al.
American Journal of Medical Genetics. Part A|August 16, 2022
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegalyWilliam B Hannah, Katherine Ryan, Surekha Pendyal, et al.
Neurology|June 16, 2026
Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic PresentationsMan Amanat, Michel Toledano, Lisa A Schimmenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasoundRaymond J Louie, Queenie K-G Tan, Jennifer B Gilner, et al.
Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Neurology. Genetics|October 18, 2024
<i>SLC29A3</i> Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case ReportSamantha A Banks, Jithma P Abeykoon, Karen Rech, et al.
Pageof 20

Showing results (51-60 of 195) with videos related to

Sort By:
Pageof 20
Journal of Personalized Medicine|November 24, 2022
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine PipelineMakenzie Beaman, Kimberley Fisher, Marie McDonald, et al.
The Journal of Pediatrics|February 18, 2015
Premature pubarche in children with Pompe diseaseQueenie K-G Tan, David W Stockton, Eniko Pivnick, et al.
American Journal of Medical Genetics. Part A|August 16, 2022
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegalyWilliam B Hannah, Katherine Ryan, Surekha Pendyal, et al.
Neurology|June 16, 2026
Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic PresentationsMan Amanat, Michel Toledano, Lisa A Schimmenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasoundRaymond J Louie, Queenie K-G Tan, Jennifer B Gilner, et al.
Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Neurology. Genetics|October 18, 2024
<i>SLC29A3</i> Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case ReportSamantha A Banks, Jithma P Abeykoon, Karen Rech, et al.
Pageof 20