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Alan Percy

Showing results (11-20 of 17) with videos related to

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Human Mutation|April 11, 2012
Splice site, frameshift, and chimeric GFAP mutations in Alexander diseaseDaniel Flint, Rong Li, Lital S Webster, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
BMJ Paediatrics Open|September 28, 2020
Consensus guidelines on managing Rett syndrome across the lifespanCary Fu, Dallas Armstrong, Eric Marsh, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 17, 2009
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalitiesRodney C Samaco, Caleigh Mandel-Brehm, Hsiao-Tuan Chao, et al.
Plos One|February 6, 2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceAmanda Jefferson, Helen Leonard, Aris Siafarikas, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
JAMA Neurology|November 17, 2015
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials, Kevin Michael Biglan, Ira Shoulson, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Human Mutation|April 11, 2012
Splice site, frameshift, and chimeric GFAP mutations in Alexander diseaseDaniel Flint, Rong Li, Lital S Webster, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
BMJ Paediatrics Open|September 28, 2020
Consensus guidelines on managing Rett syndrome across the lifespanCary Fu, Dallas Armstrong, Eric Marsh, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 17, 2009
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalitiesRodney C Samaco, Caleigh Mandel-Brehm, Hsiao-Tuan Chao, et al.
Plos One|February 6, 2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceAmanda Jefferson, Helen Leonard, Aris Siafarikas, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
JAMA Neurology|November 17, 2015
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials, Kevin Michael Biglan, Ira Shoulson, et al.
Pageof 2