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Ontology type: grid:Healthcare  | foaf:Organization     

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Publications in SciGraph latest 20 shown

  • 2018-09 Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care in GENETICS IN MEDICINE
  • 2016-12 Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57 in BMC MEDICAL GENETICS
  • 2016-12 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy in SCIENTIFIC REPORTS
  • 2016-04 Using Patient-Level Data to Develop Meaningful Cross-Trial Comparisons of Visual Impairment in Individuals with Diabetic Macular Edema in ADVANCES IN THERAPY
  • 2016-02 Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy in GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
  • 2012-12 Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90% in BMC MEDICAL GENETICS
  • 2012-12 Clinical expression of Menkes disease in females with normal karyotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-12 Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-06 Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization in BIOMEDICAL MICRODEVICES
  • 2012-02 Clinical utility gene card for: Phenylketonuria in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012 Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency in JIMD REPORTS – CASE AND RESEARCH REPORTS, 2012/6
  • 2012-01 No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-12 Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy in BMC MEDICAL GENETICS
  • 2011-12 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-12 Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-10 Clinical utility gene card for: Menkes disease in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-09 Clinical presentation and mutations in Danish patients with Wilson disease in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-07 Crystal structure of a copper-transporting PIB-type ATPase in NATURE
  • 2011-07 Retinal function in relation to improved glycaemic control in type 1 diabetes in DIABETOLOGIA
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