Found: 9
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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress.
- Published in:
- JAMA: Journal of the American Medical Association, 2003, v. 290, n. 19, p. 2564, doi. 10.1001/jama.290.19.2564
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- Publication type:
- Article
Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 6, p. 822, doi. 10.1002/mus.24100
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- Publication type:
- Article
Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 6, p. 1033, doi. 10.1373/clinchem.2012.183038
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- Publication type:
- Article
Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 1S, p. S4, doi. 10.1177/0883073899014001021
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- Publication type:
- Article
Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantation.
- Published in:
- Clinical Transplantation, 1999, v. 13, n. 5, p. 395, doi. 10.1034/j.1399-0012.1999.130505.x
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- Publication type:
- Article
Deletion of the ferrochelatase gene in a patient with protoporphyria.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 9, p. 1695
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- Publication type:
- Article
Adrenal adenomas in a patient with Gardner's syndrome.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 1, p. 67, doi. 10.1111/j.1399-0004.1981.tb01810.x
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- Publication type:
- Article
Penetrance and expressivity of the gene responsible for the Gardner syndrome.
- Published in:
- Clinical Genetics, 1977, v. 11, n. 5, p. 381, doi. 10.1111/j.1399-0004.1977.tb01332.x
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- Publication type:
- Article