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Smith-Lemli-Opitz syndrome

2000 - 2002 · Concluded

Malgorzata J.M. Nowaczyk, MD

Study results can be found in CPSP 2002 Results


CPSP Highlights

Published papers

  • Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance

    Nowaczyk MJM, Waye JS, Zeesman S, Douketis JD. J Pediatr 2004;145(4):530-5

Resource articles

Presentations

  • Surveillance helping patients with orphan genetic disorders

    Desantadina MV, Blake KD, Nowaczyk MJM. Annual Meeting of the Canadian Paediatric Society, Calgary, in June 2003

  • Postmortem molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis

    Nowaczyk MJM, Sirkin WS, Farrell SA, Eng B, Waye JS. Am J Hum Genet 2001 (in press). Annual Meeting of the American Society of Human Genetics, Dan Diego, in October 2001

  • Canadian Paediatric Surveillance Program

    Nowaczyk MJM. Association of Genetic Colleagues of Ontario Annual Educational Conference, Hamilton, in June 2001

  • Molecular diagnosis of Smith-Lemli-Opitz syndrome

    Nowaczyk MJM. Third International Smith-Lemli-Opitz/RSH Syndrome Scientific Symposium, Detroit, in June 2001

  • Incidence of Smith-Lemli-Opitz syndrome

    Nowaczyk MJM. Third International Smith-Lemli-Opitz/RSH Syndrome Scientific Symposium, Detroit, in June 2001

  • Canadian Paediatric Surveillance Program: Year I results for Smith-Lemli-Opitz syndrome

    Nowaczyk MJM. Paediatric Grand Rounds, Institute Monument-Centre of Child Health, Warsaw, Poland, in April 2001