Related Experiment Videos
Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria
Clinical Chemistry
|February 4, 1999
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
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.
Clinical chemistry·2026
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
Extending Quality Control Procedures for Multiplexed Clinical Assays.
Clinical chemistry·2026
Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026
Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.
Biology of sex differences·2026
Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.
Journal of assisted reproduction and genetics·2026
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
American journal of human genetics·2026