Christophe Béroud


Ontology type: schema:Person     


Person Info

NAME

Christophe

SURNAME

Béroud

Publications in SciGraph latest 50 shown

  • 2018-12 Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity in EUROPEAN RADIOLOGY
  • 2018-12 The French National Registry of patients with Facioscapulohumeral muscular dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017 Simple Sequence Mutations in THE MOLECULAR BASIS OF HUMAN CANCER
  • 2016-03 Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton in JOURNAL OF GENETICS
  • 2015-12 Utility of patients’ registries to gather clinical, epidemiological and molecular information in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-05 Rare inherited disorders with renal involvement—approach to the patient in KIDNEY INTERNATIONAL
  • 2014-12 Erratum to: Dispelling myths about rare disease registry system development in SOURCE CODE FOR BIOLOGY AND MEDICINE
  • 2014-08 RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research in JOURNAL OF GENERAL INTERNAL MEDICINE
  • 2014-01 Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe in JOURNAL OF NEUROLOGY
  • 2013-12 Dispelling myths about rare disease registry system development in SOURCE CODE FOR BIOLOGY AND MEDICINE
  • 2012-12 VarioML framework for comprehensive variation data representation and exchange in BMC BIOINFORMATICS
  • 2012 Bioinformatics and Mutations Leading to Exon Skipping in EXON SKIPPING
  • 2011-12 Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units in BMC BIOINFORMATICS
  • 2010-04 Locus Reference Genomic sequences: an improved basis for describing human DNA variants in GENOME MEDICINE
  • 2009-04 Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-12 Large genomic rearrangements in the CFTRgene contribute to CBAVD in BMC MEDICAL GENETICS
  • 2007-12 Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma in JOURNAL OF OCCUPATIONAL MEDICINE AND TOXICOLOGY
  • 2006-01 Locus-specific mutation databases: pitfalls and good practice based on the p53 experience in NATURE REVIEWS CANCER
  • 2001-12 Assessing TP53 status in human tumours to evaluate clinical outcome in NATURE REVIEWS CANCER
  • 2000-04 Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease in NEUROSURGICAL REVIEW
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