Molecular Syndromology

Papers
(The H4-Index of Molecular Syndromology is 8. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-08-01 to 2026-08-01.)
ArticleCitations
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals13
Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract12
Acknowledgement to Reviewers11
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report10
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion9
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report8
New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome8
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency8
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