Last Posted: Jan 25, 2020
- Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Downie Lilian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq Duaa et al. Respirology (Carlton, Vic.) 2019 24(2) 127-136 - Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.
Vats Pallavi et al. Indian pediatrics 2020 Jan 57(1) 49-55 - Newborn screening for Fabry disease in the western region of Japan.
Sawada Takaaki et al. Molecular genetics and metabolism reports 2020 Mar 22100562 - The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies M M et al. Molecular genetics and metabolism 2020 Jan - Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940 - Danish expanded newborn screening is a successful preventive public health programme.
Lund Allan et al. Danish medical journal 2020 Jan 67(1) - Metabolomics and adductomics of newborn bloodspots to retrospectively assess the early-life exposome.
Petrick Lauren M et al. Current opinion in pediatrics 2020 Jan - Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Lin Yiming et al. Frontiers in genetics 2019 101255 - Performance of ICD-10-CM diagnosis codes for identifying children with Sickle Cell Anemia.
Reeves Sarah L et al. Health services research 2020 Jan
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