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 2021-11-01 to 2025-11-01.)
ArticleCitations
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report22
Novel Pathogenic Variant (c.1171A&#x3e;T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies12
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 Tract10
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome9
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report9
Acknowledgement to Reviewers9
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals8
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion8
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