Results 221 to 230 of about 211,720 (314)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong   +7 more
wiley   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Oxygen Saturation Targeting in the Neonatal Intensive Care Unit. [PDF]

open access: yesJ Clin Med
Almudares F   +8 more
europepmc   +1 more source

Validation of Hexaplex Recombinase Polymerase Amplification Assay for the Detection of Carbapenemase Genes in Klebsiella pneumoniae Isolates From Pediatric Inpatients

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
A novel hexaplex recombinase polymerase amplification (RPA) method was developed to rapidly and accurately detect five key carbapenemase genes and a Klebsiella pneumoniae‐specific target in a single reaction. This makes it an effective tool for CRKP detection in resource‐constrained environments.
Suthawan Mutitanon   +1 more
wiley   +1 more source

Predictive Value of Modified Lung Ultrasound Score for Late Respiratory Diseases in Premature Infants: A Retrospective Cohort Analysis

open access: yesJournal of Clinical Ultrasound, EarlyView.
This study is to assess the predictive value of the modified lung ultrasound score (mLUS) for late respiratory diseases in premature infants born before 32 weeks of gestation. It is recommended that the use of mLUS scoring be promoted in clinical practice for the early screening of high‐risk preterm infants.
Shuang Zheng   +4 more
wiley   +1 more source

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