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Home > Our Research Activities > List Of Publications > Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

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