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The Journal of Pediatrics|May 2, 2016
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic AnalysisMarci K Sontag, Rachel Lee, Daniel Wright, et al.
Pediatric Neurology|September 26, 2006
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosisDevin Oglesbee, Debra Freedenberg, Karen A Kramer, et al.
Pediatrics|April 24, 2019
Health Supervision for Children With Neurofibromatosis Type 1David T Miller, Debra Freedenberg, Elizabeth Schorry, et al.
Molecular Genetics and Metabolism|August 27, 2013
The incidence of urea cycle disordersMarshall L Summar, Stefan Koelker, Debra Freedenberg, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
MECP2 duplications in six patients with complex sex chromosome rearrangementsAmy M Breman, Melissa B Ramocki, Sung-Hae L Kang, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|October 31, 2012
The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007Syed Shahrukh Hashmi, Mark A Canfield, Lisa Marengo, et al.
International Journal of Neonatal Screening|October 19, 2020
A Newborn Screening Education Best Practices Framework: Development and AdoptionAdrianna Evans, Keri LeBlanc, Natasha Bonhomme, et al.
Journal of Medical Genetics|October 6, 2010
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaMargaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 25, 2019
The association between newborn screening analytes and childhood autism in a Texas Medicaid population, 2010-2012Mark A Canfield, Peter H Langlois, Gary W Rutenberg, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|November 6, 2012
Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007Laura J Lee, Mark A Canfield, S Shahrukh Hashmi, et al.
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