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 2021-09-01 to 2025-09-01.)
ArticleCitations
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome9
Dual genetic diagnosis of Mitchell–Riley syndrome and Temple syndrome in a neonate7
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family7
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature6
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families6
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes5
Restrictive dermopathy due to ZMPSTE24 deficiency5
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