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Special issue: Newborn screening research.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 135, doi. 10.1002/ajmg.c.32007
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- Article
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 243, doi. 10.1002/ajmg.c.32005
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- Article
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 187, doi. 10.1002/ajmg.c.32003
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Can we identify WHIM in infancy? Opportunities with the public newborn screening process.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 215, doi. 10.1002/ajmg.c.32002
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Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 156, doi. 10.1002/ajmg.c.32001
- Publication type:
- Article
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 197, doi. 10.1002/ajmg.c.32000
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- Article
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 206, doi. 10.1002/ajmg.c.31998
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- Article
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 138, doi. 10.1002/ajmg.c.31997
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Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 178, doi. 10.1002/ajmg.c.31996
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- Article
Why must the debate continue on Krabbe disease newborn screening?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 153, doi. 10.1002/ajmg.c.31994
- Publication type:
- Article
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 162, doi. 10.1002/ajmg.c.31993
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- Article
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 169, doi. 10.1002/ajmg.c.31992
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- Article
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989
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- Article
Newborn screening for neurodevelopmental diseases: Are we there yet?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988
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Cover Image, Volume 190, Number 2, June 2022.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. i, doi. 10.1002/ajmg.c.31923
- Publication type:
- Article
Publication schedule for 2022.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 133, doi. 10.1002/ajmg.c.31922
- Publication type:
- Article
Table of Contents, Volume 190, Number 2, June 2022.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 131, doi. 10.1002/ajmg.c.31921
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- Article