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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz T, Blohm ME, Kortüm F, Bierhals T, Lessel D, van der Ven AT, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M. Scholz T, et al. Among authors: singer d. Neonatology. 2021;118(4):454-461. doi: 10.1159/000516890. Epub 2021 Jul 8. Neonatology. 2021. PMID: 34237744
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes U, Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka G. Kordes U, et al. Among authors: singer d. Pediatr Blood Cancer. 2010 May;54(5):758-60. doi: 10.1002/pbc.22390. Pediatr Blood Cancer. 2010. PMID: 20052779
1,646 results