Engela Honey

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Autoimmune Disease, Ophthalmology, Scleroderma +15

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency

Francois H. van der Westhuizen, Izelle Smuts, Engela Honey et al. · Journal of the Neurological Sciences · 2017 · 26 citations

Novel Mutation, Developmental Biology, Mendelian Disorder +9

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

Engela Honey, M. van Rensburg, Detlef Knoll et al. · Clinical Dysmorphology · 2003 · 24 citations