Concepedia

Clara DM van Karnebeek

CD

6

Publications

415

Citations

6

H-Index

2014

Active since

Affiliations

University of British Columbia(Current)

BC Children's Hospital

Child and Family Research Institute

Pacific Centre for Reproductive Medicine

Clara DM van Karnebeek is an author at University of British Columbia specializing in pediatrics, medicine, and child development.

Top concepts

Publications per year

2014–2017

6

Publications

6

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross et al. · Orphanet Journal of Rare Diseases · 2014 · 190 citations · Full text

The genotypic and phenotypic spectrum of PIGA deficiency

Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu et al. · Orphanet Journal of Rare Diseases · 2015 · 85 citations · Full text

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia

Clara DM van Karnebeek, Sylvia Stöckler‐Ipsiroglu · Paediatrics & Child Health · 2014 · 58 citations · Full text

, , +23

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Alexandre Janer, Clara DM van Karnebeek, Florin Sasarman et al. · European Journal of Human Genetics · 2015 · 34 citations · Full text

, , +4

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Sandra Sirrs, Clara DM van Karnebeek, Xiaoxue Peng et al. · Orphanet Journal of Rare Diseases · 2015 · 30 citations · Full text

Rows per page

1–5 of 6