Marni J Falk

Summary

Affiliation: Case Western Reserve University
Country: USA

Publications

  1. ncbi request reprint Cohen syndrome in the Ohio Amish
    Marni J Falk
    Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet A 128:23-8. 2004
  2. ncbi request reprint The primary care physician's approach to congenital anomalies
    Marni J Falk
    Departments of Genetics and Pediatrics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA
    Prim Care 31:605-19, x. 2004
  3. pmc NMNAT1 mutations cause Leber congenital amaurosis
    Marni J Falk
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 44:1040-5. 2012
  4. pmc Optical reversal of halothane-induced immobility in C. elegans
    Vinod K Singaram
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Curr Biol 21:2070-6. 2011

Detail Information

Publications4

  1. ncbi request reprint Cohen syndrome in the Ohio Amish
    Marni J Falk
    Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet A 128:23-8. 2004
    ....
  2. ncbi request reprint The primary care physician's approach to congenital anomalies
    Marni J Falk
    Departments of Genetics and Pediatrics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA
    Prim Care 31:605-19, x. 2004
    ..Using this systematic approach to a child with congenital anomalies permits accurate prognostic and recurrence risk counseling, informed management decisions, and the appropriate allocation of social support and medical resources...
  3. pmc NMNAT1 mutations cause Leber congenital amaurosis
    Marni J Falk
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 44:1040-5. 2012
    ..These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA...
  4. pmc Optical reversal of halothane-induced immobility in C. elegans
    Vinod K Singaram
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Curr Biol 21:2070-6. 2011
    ..The sum of our data indicates that leak channels and the RMP are important determinants of halothane-induced general anesthesia...