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- 2014
- Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
- 2013
- Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery
- A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
- Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
- 2012
- Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
- Acetazolamide for severe apnea in Pitt-Hopkins syndrome
- Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
- 2011
- Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
- Genotype-phenotype analysis of the branchio-oculo-facial syndrome