Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria

Clinical significance and association with pregnancy outcome of positive non-invasive prenatal screening for trisomy 15 in singleton pregnancy: prospective cohort study, systematic review and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2025

Amniotic fluid gamma-glutamyl transferase for prediction of biliary atresia in cases of non-visualisation of the fetal gallbladder: a retrospective study using a validated analytical platform and local reference range.

Hong Kong medical journal = Xianggang yi xue za zhi·2024

Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2023

Development of a prediction score (ThyroCOVID) for identifying abnormal thyroid function in COVID-19 patients.

Journal of endocrinological investigation·2022

Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.

Prenatal diagnosis·2022

Chromosomal abnormalities and neurological outcomes in fetal cerebral ventriculomegaly: a retrospective cohort analysis.

Hong Kong medical journal = Xianggang yi xue za zhi·2021

Optimal Positive Control Assays for Methylation-Specific PCR.

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Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Clinical chemistry·2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Clinical chemistry·2026

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Clinical chemistry·2026

Bidirectional associations between brain functional networks and sleep disorders: A bidirectional Mendelian randomization study.

Medicine·2026

Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution.

Medicine·2026

Genetic evidence for CTSH as a potential therapeutic target in sepsis: A Mendelian randomization and colocalization study.

Medicine·2026

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

European journal of pediatrics·2026

Genetically supported targets and drug repurposing for sleep disorders: a Mendelian randomization systematic study.

Naunyn-Schmiedeberg's archives of pharmacology·2026

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research.

Yeast (Chichester, England)·2026

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Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria

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Clinical significance and association with pregnancy outcome of positive non-invasive prenatal screening for trisomy 15 in singleton pregnancy: prospective cohort study, systematic review and meta-analysis.

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Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria

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