Vincent Laugel


Ontology type: schema:Person     


Person Info

NAME

Vincent

SURNAME

Laugel

Publications in SciGraph latest 50 shown

  • 2018-04 Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-01 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-07 Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases in JOURNAL OF NEUROLOGY
  • 2013-12 A possible cranio-oro-facial phenotype in Cockayne syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-09 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-08 Next generation sequencing for molecular diagnosis of neuromuscular diseases in ACTA NEUROPATHOLOGICA
  • 2012-06 Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-02 Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies in ACTA NEUROPATHOLOGICA
  • 2010-02 Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management in NEUROGENETICS
  • 2008-05 Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates in EUROPEAN JOURNAL OF PEDIATRICS
  • 2008-03 Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-10 Measurement of hydrostatic intraperitoneal pressure: a useful tool for the improvement of dialysis dose prescription in PEDIATRIC NEPHROLOGY
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