Results 251 to 260 of about 242,800 (316)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Antiseptic Cleansing to Reduce Vertical Transmission of Pathogens to Neonates: The NeoVT-AMR Randomized Clinical Trial.

open access: yesJAMA Netw Open
Beales E   +13 more
europepmc   +1 more source

Feasibility of neonatal intravenous nutrition for the management of gastroschisis in sub-Saharan Africa. [PDF]

open access: yesWorld J Pediatr Surg
Wright N   +20 more
europepmc   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Prevalence of methemoglobinemia after lidocaine as add-on therapy in neonatal seizures. [PDF]

open access: yesEur J Pediatr
van Oldenmark BO   +6 more
europepmc   +1 more source

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