Disease: Hydrocephalus growth retardation skeletal anomalies
- Complete trisomy 9: case report with ultrasound findings
- Craniosynostosis syndromes in the genomic era
- Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2
- Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder?
- Foramen magnum compression in Coffin-Lowry syndrome: A case report
- Kabuki make-up syndrome and report of a case with hydrocephalus
- Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
- Lack of severe malformations versus occurrence of marked embryotoxic effects after treatment of pregnant mice with cis-platinum
- Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain
- Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia
- Teratogenic effect of rubber components