about
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsA novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationSpina bifidaA case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysisImplementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yieldDiagnostic accuracy of post-mortem magnetic resonance imaging in fetuses, children and adults: a systematic review.Foetal brain imaging: ultrasound or MRI. A comparison between magnetic resonance imaging and a dedicated multidisciplinary neurosonographic opinion.A semi-automated method for non-invasive internal organ weight estimation by post-mortem magnetic resonance imaging in fetuses, newborns and children.The Welsh study of mothers and babies: protocol for a population-based cohort study to investigate the clinical significance of defined ultrasound findings of uncertain significance.Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same familyEvaluation of allelic expression of imprinted genes in adult human blood.New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol).Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study.Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.Identification of new biomarkers for Down's syndrome in maternal plasma.Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children.RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosisNon-visualisations of the fetal bladder: aetiology and management.Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.Promises, pitfalls and practicalities of prenatal whole exome sequencing.Integrity of the methylation cycle is essential for mammalian neural tube closure.Prenatal sonographic diagnosis of Malpuech syndrome.Noninvasive prenatal diagnosis: current practice and future perspectives.The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: an investigation into the preferences and information needs of womenModel-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.The differential diagnosis of enlarged hyperechogenic kidneys with normal or increased liquor volume: report of five cases and review of the literature.Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridizationLung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth.Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health ProfessionalsPrenatal gender determination and the diagnosis of genital anomalies.Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods StudyFetal cardiac anomalies and genetic syndromes.Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Lyn S Chitty
@ast
Lyn S Chitty
@en
Lyn S Chitty
@es
Lyn S Chitty
@nl
type
label
Lyn S Chitty
@ast
Lyn S Chitty
@en
Lyn S Chitty
@es
Lyn S Chitty
@nl
prefLabel
Lyn S Chitty
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Lyn S Chitty
@en
Lyn S Chitty
@es
Lyn S Chitty
@nl
P106
P21
P31
P496
0000-0002-4857-7138