Autori: Van Karnebeek Clara DM
| Naslov | Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype (Article) |
| Autori | Horvath Gabriella A Zhao Yulin Tarailo-Graovac Maja Boelman Cyrus Gill Harinder Shyr Casper Lee James Blydt-Hansen Ingrid Drogemoller Britt I Moreland Jacqueline Ross Colin J Wasserman Wyeth W Masotti Andrea Slesinger Paul A Van Karnebeek Clara DM |
| Info | NEUROSCIENCE, (2018), vol. 384 br. , str. 152-164 |
| Projekat | National Institutes of Health [DA037170, AA018734]; B.C. Children's Hospital Foundation; Genome British Columbia [SOF-195]; Canadian Institutes of Health Research [301221]; NeuroDevNet (Strategic Opportunity Grant); Genome British Columbia; Genome Canada |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation (Article) |
| Autori | Honey C Michael Malhotra Armaan K Tarailo-Graovac Maja van Karnebeek Clara DM Horvath Gabriella A Sulistyanto Adi |
| Info | JOURNAL OF CHILD NEUROLOGY, (2018), vol. 33 br. 6, str. 413-416 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders (Article) |
| Autori | Tarailo-Graovac Maja Zhu Jing Yun Alice Matthews Allison van Karnebeek Clara DM Wasserman Wyeth W |
| Info | GENETICS IN MEDICINE, (2017), vol. 19 br. 12, str. 1300-1308 |
| Projekat | Genome Canada Bioinformatics and Computational Biology [255ONT]; Canadian Institutes of Health Research (CIHR): Bioinformatics and Computational Biology [BOP-149430]; BC Children's Hospital Foundation (Treatable Intellectual Disability Endeavour in Britis |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | A case of splenomegaly in CBL syndrome (Article) |
| Autori | Coe Rachel R McKinnon Margaret L Tarailo-Graovac Maja Ross Colin J Wasserman Wyeth W Friedman Jan M Rogers Paul C van Karnebeek Clara DM |
| Info | EUROPEAN JOURNAL OF MEDICAL GENETICS, (2017), vol. 60 br. 7, str. 374-379 |
| Projekat | B.C. Children's Hospital Foundation as "1st Collaborative Area of Innovation"; Genome British Columbia [SOF-195, SOF-139]; BC Clinical Genomics Network [00032]; Canadian Institutes of Health Research [301221]; Genome Canada [ABC4DE]; British Columbia Chil |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
