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Challenges in the Diagnosis and Treatment of Congenital Syphilis.
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- Connecticut Medicine, 2012, v. 76, n. 7, p. 397
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- Article
Maternal genetic diseases: potential concerns for mother and baby.
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- Human Genetics, 2020, v. 139, n. 9, p. 1173, doi. 10.1007/s00439-019-02086-6
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- Article
Aging in Fragile X Premutation Carriers.
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- Cerebellum, 2016, v. 15, n. 5, p. 587, doi. 10.1007/s12311-016-0805-x
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- Article
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
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- JAMA: Journal of the American Medical Association, 2023, v. 330, n. 2, p. 161, doi. 10.1001/jama.2023.9350
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- Article
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
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- JAMA Pediatrics, 2021, v. 175, n. 5, p. e205906, doi. 10.1001/jamapediatrics.2020.5906
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- Article