Search results: Sage Journals

Open accessResearch articleFirst published July 2, 2024

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease

Catarina Olimpio, Ida Paramonov, Leslie Matalonga [...]

Journal of Neuromuscular Diseases

Restricted accessResearch articleFirst published June, 1972

Diagnostic Implications of WISC Scores: A Reanalysis

John F. Winne, Sarah M. Schoonover

Psychological Reports

Restricted accessResearch articleFirst published August, 1987

Reanalysis of a Meta-Analysis of the Validity of the Wechsler Scales in the Diagnosis of Learning Disability

James Inglis, J.S. Lawson

Learning Disability Quarterly

Open accessReview articleFirst published 2026

Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework

Lisa-Sophie Wüstner, Kornelia Ellwanger, Nika Schuermans [...]

Journal of Neuromuscular Diseases

Available accessOtherFirst published November, 2007

Blood Levels of Mercury Are Related to Diagnosis of Autism: A Reanalysis of an Important Data Set

M. Catherine DeSoto, Robert T. Hitlan

Journal of Child Neurology

Available accessResearch articleFirst published April, 2025

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly,Polydactyly,and Aplasia Cutis Congenita: A Short Report and a Review of the Literature

Khurram Liaqat, Kimberly Felipe, Kayla Treat [...]

Genetic Testing and Molecular Biomarkers

Available accessResearch articleFirst published February, 1993

Diagnostic Reasoning of High - and Low - domain-knowledge Clinicians

Arthur S. Elstein, Benjamin Kleinmuntz, Mitchell Rabinowitz [...]

Medical Decision Making

Open accessResearch articleFirst published 2026

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

Eylul Aydin, Aybike S. Bulut, Berkay Yildiz [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published February, 1996

An Investigation of a Method of Simplified Scoring for the Kaufman Hand Movements Test as a Measure of Limb Apraxia

Michael R. Neiman, Robert J. Duffy, Steven A. Belanger [...]

Perceptual and Motor Skills

Available accessResearch articleFirst published 2026

A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier

Emilee Ly, Marcus Lee

Journal of Child Neurology

Open accessResearch articleFirst published July 2, 2024

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease

Catarina Olimpio, Ida Paramonov, Leslie Matalonga [...]

Journal of Neuromuscular Diseases

Restricted accessResearch articleFirst published June, 1972

Diagnostic Implications of WISC Scores: A Reanalysis

John F. Winne, Sarah M. Schoonover

Psychological Reports

Restricted accessResearch articleFirst published August, 1987

Reanalysis of a Meta-Analysis of the Validity of the Wechsler Scales in the Diagnosis of Learning Disability

James Inglis, J.S. Lawson

Learning Disability Quarterly

Open accessReview articleFirst published 2026

Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework

Lisa-Sophie Wüstner, Kornelia Ellwanger, Nika Schuermans [...]

Journal of Neuromuscular Diseases

Available accessOtherFirst published November, 2007

Blood Levels of Mercury Are Related to Diagnosis of Autism: A Reanalysis of an Important Data Set

M. Catherine DeSoto, Robert T. Hitlan

Journal of Child Neurology

Available accessResearch articleFirst published April, 2025

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly,Polydactyly,and Aplasia Cutis Congenita: A Short Report and a Review of the Literature

Khurram Liaqat, Kimberly Felipe, Kayla Treat [...]

Genetic Testing and Molecular Biomarkers

Available accessResearch articleFirst published February, 1993

Diagnostic Reasoning of High - and Low - domain-knowledge Clinicians

Arthur S. Elstein, Benjamin Kleinmuntz, Mitchell Rabinowitz [...]

Medical Decision Making

Open accessResearch articleFirst published 2026

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

Eylul Aydin, Aybike S. Bulut, Berkay Yildiz [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published February, 1996

An Investigation of a Method of Simplified Scoring for the Kaufman Hand Movements Test as a Measure of Limb Apraxia

Michael R. Neiman, Robert J. Duffy, Steven A. Belanger [...]

Perceptual and Motor Skills

Available accessResearch articleFirst published 2026

A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier

Emilee Ly, Marcus Lee

Journal of Child Neurology