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RESEARCH
Genetics

Molecular Syndromology

Editor: Poot, Martin (Würzburg)

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Current Issue
Volume 14,
Issue 5,
October 2023
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News & Highlights

Call for Papers

Genetic and Clinical Characterization of Genes Associated with Novel Genetic Disorders.

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Interview with Angela Scheuerle

Meet new Editor-in-Chief Angela Scheuerle, M.D.

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Articles

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families
A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
Editor's Choice
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1
Co-Occurring Atypical Galactosemia and Wilson Disease

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  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
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