Molecular Syndromology

Papers
(The H4-Index of Molecular Syndromology is 7. 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 2022-06-01 to 2026-06-01.)
ArticleCitations
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals12
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 Tract11
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report9
Acknowledgement to Reviewers9
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion8
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report8
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency8
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C7
New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome7
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia7
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