Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Julie De Geyter

Exome Sequencing of Fetal Anomaly Syndromes: Novel Phenotype–genotype Discoveries

European Journal of Human Genetics
Genetics
2019English

Related publications

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

PLoS ONE
Multidisciplinary
2014English

Exome Sequencing to Identify Novel Genes in Hypertension

Circulation: Cardiovascular Genetics
2012English

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

Ophthalmology
Ophthalmology
2014English

P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

P01.03: Fetal Echocardiographic Features and Whole-Exome Sequencing Results of Ventricular Non-Compaction Cardiomyopathy

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics
GeneticsMolecular Medicine
2019English

Genotype-Phenotype Correlations in Joubert Syndrome in the Era of Next Generation Sequencing

Cilia
Cell Biology
2015English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE
Multidisciplinary
2013English

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy