Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008 · European Journal of Human Genetics · 148 citations
https://doi.org/10.1038/ejhg.2008.208
D
Declan O’Rourke
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
55
Papers
716
Citations
15
h-index
17
i10-index
Declan O’Rourke is an academic researcher from Children's Health Ireland at Crumlin. The author has contributed to research in topics: Milk Quality and Mastitis in Dairy Cows & Neurogenetic and Muscular Disorders Research & Epilepsy research and treatment. The author has an h-index of 15, co-authored 47 publications.
Papers by this author
worksNutrition and udder health in dairy cows: a review
2009 · Irish Veterinary Journal · 72 citations
https://doi.org/10.1186/2046-0481-62-s4-s15
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies
2017 · Epilepsy & Behavior Case Reports · 16 citations
https://doi.org/10.1016/j.ebcr.2016.12.001
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat