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Open access

Research article

First published 2019-3

Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies,spontaneous abortions,and suspected genetic disorders

Rui Zhang, Xiangbin Chen, Dong Wang [...]

Journal of International Medical Research

Retricted access

Research article

First published 2009-04

The Evaluation of the Referral Reasons of Patients at a Tertiary Pediatric Genetic Center in Izmir,Turkey

Burak Durmaz, Asude Alpman, Erhan Pariltay [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2020-04-13

Expanding clinical genetics services in a rural state in the post-genomic,technology-connected age: A dispatch from Mississippi

Brian Kirmse

Translational Science of Rare Diseases

Retricted access

Review article

First published 2012-6

Glucose Transporter Type I Deficiency Causing Mitochondrial Dysfunction

Jeremy Lankford, Ian J. Butler, Mary Kay Koenig

Journal of Child Neurology

Open access

Case report

First published 2023

Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report

Mariam Fida, Israa Sinan, Alan Finan

Clinical Medicine Insights: Pediatrics

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Other

First published 2004-04

Rett Syndrome: A Prototypical Neurodevelopmental Disorder

Jeffrey L. Neul, Huda Y. Zoghbi

The Neuroscientist

Free access

Research article

First published 2016-6

Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature

G Ricci, S Ferrari, E Calamelli [...]

International Journal of Immunopathology and Pharmacology

Free access

Research article

First published 1988-11

Idiopathic Cutaneous and Renal Glomerular Vasculopathy of Greyhounds

J. L. Carpenter, N. C. Andelman, F. M. Moore [...]

Veterinary Pathology

Open access

Case report

First published 2025

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child,With Brief Literature Review of 44 Cases

Reema Iskafi, Bahaa AbuRahmeh, Roa’a Aljuneidi [...]

Journal of Investigative Medicine High Impact Case Reports

Retricted access

Review article

First published 1995-4

Is There a Case for a Virus Aetiology in Multiple Sclerosis?

Bernard E. Souberbielle, Paul W.S. Szawlowski, William C. Russell

Scottish Medical Journal

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