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Last Posted: May 08, 2020
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Smith Laurie D et al. International journal of neonatal screening 2020 Jun 6(2) - The first study of successful pregnancies in Chinese patients with Phenylketonuria.
Wang Lin et al. BMC pregnancy and childbirth 2020 Apr 20(1) 253 - Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Apr - Newborn Screening Program for Oman: The Time is Here and Now.
Joshi Surendra Nath et al. Oman medical journal 2012 Sep 27(5) 346-7 - Clinical Genomics Data for Precision Medicine
S Garcia et al, Health IT Buzz, April 22, 2020 - Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96 - Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
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