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Retricted access

Case report

First published 2023-3

Impact of COVID-19 Pandemic on a Multidisciplinary Approach to Reverse Phenotyping: A Case Report on Prenatal Diagnosis of CAMRQ Type 4 Syndrome

Madhura Geethika Velpula, Venkata Nagaraja Adusumilli, Teena Koshy [...]

Journal of Neonatology

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Research article

First published 1988-10

Joubert Syndrome: Early Diagnosis by Recognition of the Behavioral Phenotype and Confirmation by Cranial Sonography

Buford O. Edwards, Asma Q. Fischer, David B. Flannery

Journal of Child Neurology

Free access

Case report

First published 2023-1-3

LAMA2 -Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Tanya Stojkovic, Marion Masingue, Corinne Métay [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-8

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype

Liu Ouyang, Yan Li, Fangfang Liu [...]

Journal of International Medical Research

Open access

Research article

First published 2024-04-30

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1 -Congenital Myopathy

Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025

A multimodal approach to distinguish multiple sclerosis phenotypes at diagnosis using biomarker profiles

Aurora Zanghì, Paola Sofia Di Filippo, Annamaria Greco [...]

Therapeutic Advances in Neurological Disorders

Open access

Research article

First published 2024-10

The effect of autism phenotype and diagnosis disclosure on students’ desire for social distance from autistic peers

Indrė Muraškaitė, Kristina Žardeckaitė-Matulaitienė

Autism

Open access

Research article

First published 2021

Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study

Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß [...]

Therapeutic Advances in Neurological Disorders

Free access

Research article

First published 2009-06

Evolution of Prenatal Diagnostic Techniques From Phenotypic Diagnosis to Gene Arrays: Its Likely Impact on Prenatal Diagnosis of Hemophilia

Kanjaksha Ghosh, Shrimati Shetty, Mukesh Tulsiani

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Research article

First published 2017-5

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response,Novel Mutations,and Diagnostic Challenges

Paul J. Benke, Ryan J. Hidalgo, Bruce H. Braffman [...]

Journal of Child Neurology

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