Heart, Lung, Blood and Sleep Disorders
Records 1 - 6 (of 6 Records) |
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Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Munck Anne et al. Pediatric pulmonology 2020 Jan |
CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1 ClinGen Actionability Working Group |
CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1 ClinGen Actionability Working Group |
CLINGEN Actionability Report for Myofibrillar Myopathy -DES, BAG3, FLNC ClinGen Actionability Working Group |
B 2 adrenergic receptor gene polymorphism effect on childhood asthma severity and response to treatment. Alghobashy Ashgan Abdallah et al. Pediatric research 2018 83(3) 597-605 |
Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema. Miskoff Jeffrey A et al. Cureus 2019 Jan 11(1) e3971 |