Roberta Biancheri


Ontology type: schema:Person     


Person Info

NAME

Roberta

SURNAME

Biancheri

Publications in SciGraph latest 50 shown

  • 2015-12 The genotypic and phenotypic spectrum of PIGA deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-08 AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset in NEUROGENETICS
  • 2013-12 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-01 Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-04 Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q in EUROPEAN JOURNAL OF PEDIATRICS
  • 2006-09 GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features in JOURNAL OF NEUROLOGY
  • 2005-12 Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease in NEUROGENETICS
  • 2005 The Orbit in PEDIATRIC NEURORADIOLOGY
  • 2005 Capillary-Venous Malformations in PEDIATRIC NEURORADIOLOGY
  • 2005 Hydrocephalus, Cysts, and Other Disorders of the Cerebrospinal Fluid Spaces in PEDIATRIC NEURORADIOLOGY
  • 2005 Hemolymphoproliferative Diseases and Treatment-Related Disorders in PEDIATRIC NEURORADIOLOGY
  • 2005 Phakomatoses in PEDIATRIC NEURORADIOLOGY
  • 2001-11 Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome in NEURORADIOLOGY
  • 1999-05 Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly in CHILD'S NERVOUS SYSTEM
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