Sylvie Manouvrier Hanu


Ontology type: schema:Person     


Person Info

NAME

Sylvie

SURNAME

Manouvrier Hanu

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-03 Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-05-04 Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder in MOLECULAR PSYCHIATRY
  • 2018-05 MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype in NEUROGENETICS
  • 2017-09 Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 in GENETICS IN MEDICINE
  • 2017-08 Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-06 The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study in JOURNAL OF GENETIC COUNSELING
  • 2016-06 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11 Myhre and LAPS syndromes: clinical and molecular review of 32 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11 Myhre and LAPS syndromes: clinical and molecular review of 32 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-11 Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-11 A new mutation in TP63 is associated with age-related pathology in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-05 Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-09 CARD15 mutations in Blau syndrome in NATURE GENETICS
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