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Best Practice & Research. Clinical Obstetrics & Gynaecology|September 10, 2024
Chapter 2: Non-invasive prenatal diagnosisStephanie K Allen, Samantha DoylePlos One|November 13, 2015
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound HeterozygosityEmmanuel Debrand, Alexandra Lykoudi, Elizabeth Bradshaw, et al.Genetics Research|September 2, 2020
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national auditFiona S Togneri, Stephanie K Allen, Kathy Mann, et al.Prenatal Diagnosis|September 12, 2023
Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotypeMark D Kilby, James Castleman, Stephanie Allen, et al.Expert Review of Molecular Diagnostics|April 20, 2021
The prenatal exome - a door to prenatal diagnostics?James S Castleman, Elizabeth Wall, Stephanie Allen, et al.European Journal of Human Genetics : EJHG|May 20, 2020
EMQN best practice guidelines for genetic testing in dystrophinopathiesCarl Fratter, Raymond Dalgleish, Stephanie K Allen, et al.Genetics Research|December 10, 2019
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics LaboratoryFiona S Togneri, Mark D Kilby, Elizabeth Young, et al.Prenatal Diagnosis|December 8, 2023
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomaliesStephanie K Allen, Natalie J Chandler, Esther Kinning, et al.Acta Obstetricia Et Gynecologica Scandinavica|October 31, 2020
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort studyFionnuala Mone, Samantha Doyle, Asfa Ahmad, et al.JIMD Reports|June 27, 2019
The genetic and biochemical basis of trimethylaminuria in an Irish cohortSamantha Doyle, James J O'Byrne, Mandy Nesbitt, et al.Pageof 2