Concepedia

Ramona Salvarinova

RS

Statistics

Publications

25

Citations

1.3K

H-Index

19

Active since

2008

Affiliations

BC Children's Hospital(Current)

University of British Columbia

Radboud University Medical Center

Radboud University Nijmegen

Child and Family Research Institute

Ramona Salvarinova is an author at BC Children's Hospital specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2008–2022

25

Publications

25

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

, , +12

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 128 citations · Full text

, , +16

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 109 citations

, , +15

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, C DeGuzman et al. · Frontiers in Neurology · 2019 · 100 citations · Full text

, , +16

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

Peter Witters, Shawn Tahata, Rita Barone et al. · Genetics in Medicine · 2020 · 78 citations · Full text

, , +13

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