Clinical Dysmorphology

Papers
(The H4-Index of Clinical Dysmorphology is 5. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion11
SOX11-related syndrome: report on a new case and review7
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree6
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers6
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review6
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature5
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type5
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