Clinical Dysmorphology

Papers
(The H4-Index of Clinical Dysmorphology is 4. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation5
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature5
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene4
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability4
DEGS1-related leukodystrophy: a clinical report and review of literature4
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant4
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome4
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene4
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