Institute of Child Health View Homepage


Ontology type: grid:Healthcare  | foaf:Organization     


Organization Info

NAME

Institute of Child Health

HOMEPAGE

http://www.ich.gr/en/

ADDRESS

http://www.grid.ac/institutes/grid.414709.f/address-0

Publications in SciGraph latest 20 shown

  • 2019-02-08 Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Lifetime and past-year prevalence of children’s exposure to violence in 9 Balkan countries: the BECAN study in CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH
  • 2017-12 Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations in BMC MEDICAL GENETICS
  • 2016-12 Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment in BMC OPHTHALMOLOGY
  • 2013-12 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-09 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle in NATURE
  • 2011-12 Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy in MOLECULAR CYTOGENETICS
  • 2011-12 Erratum to: Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy in MOLECULAR CYTOGENETICS
  • 2010-12 The use of array-CGH in a cohort of Greek children with developmental delay in MOLECULAR CYTOGENETICS
  • 2010-10 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-12 Chitotriosidase plasma activity in nephropathic cystinosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-12 Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) in MOLECULAR CYTOGENETICS
  • 2009-02 Copy number variation and genomic alterations in health and disease in GENOME MEDICINE
  • 2009 Retracted: Brain Damage in Phenylalanine, Homocysteine and Galactose Metabolic Disorders in METABOLIC ENCEPHALOPATHY
  • 2008-08-08 Retracted: Brain Damage in Phenylalanine, Homocysteine and Galactose Metabolic Disorders in METABOLIC ENCEPHALOPATHY
  • 2008-01 A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris in HORMONES
  • 2007-11 Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-08 Seven cases of Pompe disease from Greece in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-08 Homozygosity for the double D409H+H255Q allele in type II Gaucher disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-02 The effect of MTHFR(C677T) genotype on plasma homocysteine concentrations in healthy children is influenced by gender in EUROPEAN JOURNAL OF CLINICAL NUTRITION
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    This table displays all metadata directly associated to this object as RDF triples.

    11 TRIPLES      10 PREDICATES      11 URIs      6 LITERALS

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    2 vivo:abbreviation ICH
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    5 grid:id grid.414709.f
    6 grid:isni 0000 0004 0383 4326
    7 rdf:type grid:Healthcare
    8 foaf:Organization
    9 rdfs:label Institute of Child Health
    10 skos:prefLabel Institute of Child Health
    11 foaf:homepage http://www.ich.gr/en/
     




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