Caroline Thambo-Rooryck
Bordeaux, France
Last Updated: 09/26/2026
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Found 10 publications
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Journal: Journal of clinical medicine
Published: March 31, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Journal: Scientific reports
Published: January 28, 2020
International Triadin Knockout Syndrome Registry.
Journal: Circulation. Genomic and precision medicine
Published: January 17, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Journal: Clinical genetics
Published: October 12, 2018
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Journal: Journal of medical genetics
Published: October 02, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Journal: The British journal of ophthalmology
Published: September 17, 2018
Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography.
Journal: The international journal of cardiovascular imaging
Published: February 28, 2016
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Journal: JAMA psychiatry
Published: December 03, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026