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BMJ Open
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October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Journal of Medical Genetics
|
February 5, 2013
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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Search research articles
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Showing results (71-80 of 74) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 74 results.
BMJ Open
|
October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Journal of Medical Genetics
|
February 5, 2013
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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of 8