Marilyn C Jones


Ontology type: schema:Person     


Person Info

NAME

Marilyn C

SURNAME

Jones

Publications in SciGraph latest 50 shown

  • 2018-09 Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-10 Mutation of <i>WIF1:</i> a potential novel cause of a Nail-Patella-like disorder in GENETICS IN MEDICINE
  • 2017-08 Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-05 Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-01 Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-10 The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience in JOURNAL OF PERINATOLOGY
  • 2008-05 Developing a national collaborative study system for rare genetic diseases in GENETICS IN MEDICINE
  • 2007-09 High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor in HUMAN GENETICS
  • 1994-05 Truncus arteriosus associated with trisomy 18 in PEDIATRIC CARDIOLOGY
  • 1987-02 A patient with extreme variation in number and size of small marker chromosomes in HUMAN GENETICS
  • 1983-04 Failure of balloon dilatation in mid-cavity obstruction of the systemic venous atrium after the Mustard operation in PEDIATRIC CARDIOLOGY
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