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Human Mutation
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March 30, 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
Bryn D Webb, Anthony Evans, Thomas P Naidich, et al.
Journal of the American Academy of Child and Adolescent Psychiatry
|
March 27, 2016
Development of an Objective Autism Risk Index Using Remote Eye Tracking
Thomas W Frazier, Eric W Klingemier, Mary Beukemann, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Amel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics and Metabolism
|
February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Sumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Plos One
|
January 2, 2024
Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia
Sue M Evans, Kris Ivanova, Danca Cossio, et al.
Journal of Child Neurology
|
April 12, 2013
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup
Michael M Segal, Marc S Williams, Andrea L Gropman, et al.
The Journal of Pediatrics
|
January 10, 2016
Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial
Diane C Chugani, Harry T Chugani, Max Wiznitzer, et al.
Journal of Patient-Reported Outcomes
|
October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives
Paolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Brain : a Journal of Neurology
|
December 22, 2020
Early-onset phenotype of bi-allelic GRN mutations
Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
Molecular Genetics and Metabolism
|
June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with caution
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 97) with videos related to
Sort By:
Page
of 10
Human Mutation
|
March 30, 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
Bryn D Webb, Anthony Evans, Thomas P Naidich, et al.
Journal of the American Academy of Child and Adolescent Psychiatry
|
March 27, 2016
Development of an Objective Autism Risk Index Using Remote Eye Tracking
Thomas W Frazier, Eric W Klingemier, Mary Beukemann, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Amel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics and Metabolism
|
February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Sumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Plos One
|
January 2, 2024
Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia
Sue M Evans, Kris Ivanova, Danca Cossio, et al.
Journal of Child Neurology
|
April 12, 2013
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup
Michael M Segal, Marc S Williams, Andrea L Gropman, et al.
The Journal of Pediatrics
|
January 10, 2016
Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial
Diane C Chugani, Harry T Chugani, Max Wiznitzer, et al.
Journal of Patient-Reported Outcomes
|
October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives
Paolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Brain : a Journal of Neurology
|
December 22, 2020
Early-onset phenotype of bi-allelic GRN mutations
Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
Molecular Genetics and Metabolism
|
June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with caution
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Page
of 10