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Steven A Skinner

Showing results (41-50 of 71) with videos related to

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Pediatric Neurology|March 25, 2015
Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosisDaniel C Tarquinio, Wei Hou, Jeffrey L Neul, et al.
Neurology|May 5, 2019
Hand stereotypies: Lessons from the Rett Syndrome Natural History StudyJennifer L Stallworth, Marisela E Dy, Caroline B Buchanan, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Annals of the Child Neurology Society|March 18, 2024
Distribution of hand function by age in individuals with Rett syndromeJeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeLynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
Nature Immunology|April 19, 2024
Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolismJoey H Li, Adalia Zhou, Cassidy D Lee, et al.
Nature Immunology|April 8, 2024
MEF2C regulates NK cell effector functions through control of lipid metabolismJoey H Li, Adalia Zhou, Cassidy D Lee, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
European Journal of Human Genetics : EJHG|December 1, 2023
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Pediatric Neurology|March 25, 2015
Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosisDaniel C Tarquinio, Wei Hou, Jeffrey L Neul, et al.
Neurology|May 5, 2019
Hand stereotypies: Lessons from the Rett Syndrome Natural History StudyJennifer L Stallworth, Marisela E Dy, Caroline B Buchanan, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Annals of the Child Neurology Society|March 18, 2024
Distribution of hand function by age in individuals with Rett syndromeJeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeLynne M Bird, Wen-Hann Tan, Carlos A Bacino, et al.
Nature Immunology|April 19, 2024
Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolismJoey H Li, Adalia Zhou, Cassidy D Lee, et al.
Nature Immunology|April 8, 2024
MEF2C regulates NK cell effector functions through control of lipid metabolismJoey H Li, Adalia Zhou, Cassidy D Lee, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
European Journal of Human Genetics : EJHG|December 1, 2023
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
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