Maja Tarailo Graovac


Ontology type: schema:Person     


Person Info

NAME

Maja

SURNAME

Tarailo Graovac

Publications in SciGraph latest 50 shown

  • 2018-12-13 Atypical cerebral palsy: genomics analysis enables precision medicine in GENETICS IN MEDICINE
  • 2018-05 The role of the clinician in the multi-omics era: are you ready? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-05 Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-12 Correction to: FLAGS, frequently mutated genes in public exomes in BMC MEDICAL GENOMICS
  • 2017-12 Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders in GENETICS IN MEDICINE
  • 2017-12 Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-06 Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development in NATURE GENETICS
  • 2017 Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) in JIMD REPORTS, VOLUME 33
  • 2016-07 NANS-mediated synthesis of sialic acid is required for brain and skeletal development in NATURE GENETICS
  • 2016-06 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016 Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) in JIMD REPORTS, VOLUME 33
  • 2016 Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes in JIMD REPORTS, VOLUME 31
  • 2015-12 Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-12 The genotypic and phenotypic spectrum of PIGA deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-12 Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation in BMC GENOMICS
  • 2015-04 Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities in NEUROGENETICS
  • 2014-12 Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans in BMC GENOMICS
  • 2014-12 FLAGS, frequently mutated genes in public exomes in BMC MEDICAL GENOMICS
  • 2014-08 AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset in NEUROGENETICS
  • 2010-12 Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans in BMC CELL BIOLOGY
  • 2009-12 Polymorphic segmental duplication in the nematode Caenorhabditis elegans in BMC GENOMICS
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