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American Journal of Medical Genetics. Part A
|
June 14, 2025
Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants
Talia Thompson, Dennis Gurfinkel, Lori Silveira, et al.
Journal of Neurodevelopmental Disorders
|
January 25, 2025
A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome
Kathleen Campbell, Jeffrey L Neul, David N Lieberman, et al.
BMJ Paediatrics Open
|
October 7, 2020
Multisystem comorbidities in classic Rett syndrome: a scoping review
Cary Fu, Dallas Armstrong, Eric Marsh, et al.
Genes
|
August 29, 2024
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, et al.
BMJ Paediatrics Open
|
September 28, 2020
Consensus guidelines on managing Rett syndrome across the lifespan
Cary Fu, Dallas Armstrong, Eric Marsh, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2020
Phenotypic features in MECP2 duplication syndrome: Effects of age
Sarika U Peters, Cary Fu, Eric D Marsh, et al.
American Journal on Intellectual and Developmental Disabilities
|
November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
Melissa Raspa, Carla M Bann, Angela Gwaltney, et al.
Clinical Genetics
|
February 22, 2019
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
Sarika U Peters, Cary Fu, Bernhard Suter, et al.
Med (New York, N.Y.)
|
March 5, 2025
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome
Alan K Percy, Robin Ryther, Eric D Marsh, et al.
Journal of Neurodevelopmental Disorders
|
September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Heather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
June 14, 2025
Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants
Talia Thompson, Dennis Gurfinkel, Lori Silveira, et al.
Journal of Neurodevelopmental Disorders
|
January 25, 2025
A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome
Kathleen Campbell, Jeffrey L Neul, David N Lieberman, et al.
BMJ Paediatrics Open
|
October 7, 2020
Multisystem comorbidities in classic Rett syndrome: a scoping review
Cary Fu, Dallas Armstrong, Eric Marsh, et al.
Genes
|
August 29, 2024
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, et al.
BMJ Paediatrics Open
|
September 28, 2020
Consensus guidelines on managing Rett syndrome across the lifespan
Cary Fu, Dallas Armstrong, Eric Marsh, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2020
Phenotypic features in MECP2 duplication syndrome: Effects of age
Sarika U Peters, Cary Fu, Eric D Marsh, et al.
American Journal on Intellectual and Developmental Disabilities
|
November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
Melissa Raspa, Carla M Bann, Angela Gwaltney, et al.
Clinical Genetics
|
February 22, 2019
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
Sarika U Peters, Cary Fu, Bernhard Suter, et al.
Med (New York, N.Y.)
|
March 5, 2025
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome
Alan K Percy, Robin Ryther, Eric D Marsh, et al.
Journal of Neurodevelopmental Disorders
|
September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Heather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Page
of 4